12-54115890-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54115890
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54115890
    reference: chr 12
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.580G>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.580G>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.429G>C
  hgvsp: ENSP00000397189.2:p.Glu143Asp
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.528G>C
  hgvsp: ENSP00000449960.1:p.Glu176Asp
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.528G>C
  hgvsp: ENSP00000262059.4:p.Glu176Asp
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.528G>C
  hgvsp: ENSP00000447647.1:p.Glu176Asp
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41740
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6978
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2520
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu176Asp
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

12-54115897-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54115897
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54115897
    reference: chr 12
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.521T>A
  hgvsp: ENSP00000449960.1:p.Val174Glu
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.521T>A
  hgvsp: ENSP00000262059.4:p.Val174Glu
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.573T>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.573T>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.422T>A
  hgvsp: ENSP00000397189.2:p.Val141Glu
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.521T>A
  hgvsp: ENSP00000447647.1:p.Val174Glu
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41740
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2129
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6974
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2954
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val174Glu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

12-54115904-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54115904
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54115904
    reference: chr 12
allele count: 4
allele frequency: 3.297174321606383e-5
allele num: 121316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.514G>A
  hgvsp: ENSP00000447647.1:p.Gly172Arg
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.514G>A
  hgvsp: ENSP00000449960.1:p.Gly172Arg
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.514G>A
  hgvsp: ENSP00000262059.4:p.Gly172Arg
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.415G>A
  hgvsp: ENSP00000397189.2:p.Gly139Arg
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.566G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.566G>A
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2953
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly172Arg
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

12-54115910-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54115910
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54115910
    reference: chr 12
allele count: 3
allele frequency: 2.473003050037095e-5
allele num: 121310
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.508C>T
  hgvsp: ENST00000550804.1:c.508C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.508C>T
  hgvsp: ENST00000262059.4:c.508C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.560C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.508C>T
  hgvsp: ENST00000548263.1:c.508C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.409C>T
  hgvsp: ENST00000430117.2:c.409C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.560C>T
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6984
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2523
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu170Leu
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

12-54115912-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54115912
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54115912
    reference: chr 12
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.506A>G
  hgvsp: ENSP00000449960.1:p.Gln169Arg
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.506A>G
  hgvsp: ENSP00000262059.4:p.Gln169Arg
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.558A>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.558A>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.407A>G
  hgvsp: ENSP00000397189.2:p.Gln136Arg
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.506A>G
  hgvsp: ENSP00000447647.1:p.Gln169Arg
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6982
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2957
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln169Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-54115926-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54115926
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54115926
    reference: chr 12
allele count: 3
allele frequency: 2.472962279082036e-5
allele num: 121312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.544G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.492G>A
  hgvsp: ENSP00000262059.4:p.Met164Ile
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.393G>A
  hgvsp: ENSP00000397189.2:p.Met131Ile
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.492G>A
  hgvsp: ENSP00000450083.1:p.Met164Ile
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.492G>A
  hgvsp: ENSP00000449960.1:p.Met164Ile
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.544G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.492G>A
  hgvsp: ENSP00000447647.1:p.Met164Ile
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2514
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2130
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met164Ile
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

12-54115931-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54115931
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54115931
    reference: chr 12
allele count: 2
allele frequency: 1.648695881557688e-5
allele num: 121308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.388C>T
  hgvsp: ENST00000430117.2:c.388C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.539C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.539C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.487C>T
  hgvsp: ENST00000548263.1:c.487C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.487C>T
  hgvsp: ENST00000550804.1:c.487C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.487C>T
  hgvsp: ENST00000262059.4:c.487C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.487C>T
  hgvsp: ENST00000551900.1:c.487C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11447
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2953
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu163Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

12-54115936-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54115936
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54115936
    reference: chr 12
allele count: 20
allele frequency: 1.648777431534517e-4
allele num: 121302
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.383A>G
  hgvsp: ENSP00000397189.2:p.Asn128Ser
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.482A>G
  hgvsp: ENSP00000449960.1:p.Asn161Ser
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.482A>G
  hgvsp: ENSP00000447647.1:p.Asn161Ser
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.482A>G
  hgvsp: ENSP00000450083.1:p.Asn161Ser
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.534A>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.482A>G
  hgvsp: ENSP00000262059.4:p.Asn161Ser
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.534A>G
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6982
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2949
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41700
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn161Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

12-54115939-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54115939
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54115939
    reference: chr 12
allele count: 2
allele frequency: 1.649022129876983e-5
allele num: 121284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.479G>A
  hgvsp: ENSP00000447647.1:p.Arg160Gln
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.479G>A
  hgvsp: ENSP00000449960.1:p.Arg160Gln
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.531G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.479G>A
  hgvsp: ENSP00000262059.4:p.Arg160Gln
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.479G>A
  hgvsp: ENSP00000450083.1:p.Arg160Gln
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.380G>A
  hgvsp: ENSP00000397189.2:p.Arg127Gln
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.479G>A
  hgvsp: ENST00000546619.1:c.479G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.531G>A
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2949
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg160Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

12-54115940-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54115940
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54115940
    reference: chr 12
allele count: 6
allele frequency: 4.947147969195758e-5
allele num: 121282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.530C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.478C>T
  hgvsp: ENSP00000450083.1:p.Arg160Trp
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.478C>T
  hgvsp: ENSP00000449960.1:p.Arg160Trp
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.379C>T
  hgvsp: ENSP00000397189.2:p.Arg127Trp
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.530C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.478C>T
  hgvsp: ENSP00000447647.1:p.Arg160Trp
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.478C>T
  hgvsp: ENSP00000262059.4:p.Arg160Trp
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.478C>T
  hgvsp: ENST00000546619.1:c.478C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg160Trp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD

12-54115956-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54115956
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54115956
    reference: chr 12
allele count: 2
allele frequency: 1.649919978881024e-5
allele num: 121218
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.363T>C
  hgvsp: ENST00000430117.2:c.363T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.462T>C
  hgvsp: ENST00000551900.1:c.462T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.514T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.524T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.462T>C
  hgvsp: ENST00000550804.1:c.462T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.462T>C
  hgvsp: ENST00000546619.1:c.462T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.462T>C
  hgvsp: ENST00000548263.1:c.462T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.462T>C
  hgvsp: ENST00000262059.4:c.462T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.514T>C
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2542
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp154Asp
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

12-54115959-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54115959
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54115959
    reference: chr 12
allele count: 83
allele frequency: 6.849315068493151e-4
allele num: 121180
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.459C>T
  hgvsp: ENST00000262059.4:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.511C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.521C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.459C>T
  hgvsp: ENST00000550804.1:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.511C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.459C>T
  hgvsp: ENST00000546619.1:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.459C>T
  hgvsp: ENST00000548263.1:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.459C>T
  hgvsp: ENST00000551900.1:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.360C>T
  hgvsp: ENST00000430117.2:c.360C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11388
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40129
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu153Leu
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

12-54115966-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54115966
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54115966
    reference: chr 12
allele count: 1
allele frequency: 8.254911672445104e-6
allele num: 121140
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.452A>G
  hgvsp: ENSP00000447647.1:p.Asn151Ser
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.452A>G
  hgvsp: ENSP00000262059.4:p.Asn151Ser
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.452A>G
  hgvsp: ENSP00000449960.1:p.Asn151Ser
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.514A>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.353A>G
  hgvsp: ENSP00000397189.2:p.Asn118Ser
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.452A>G
  hgvsp: ENSP00000450083.1:p.Asn151Ser
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.452A>G
  hgvsp: ENSP00000448621.1:p.Asn151Ser
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.504A>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.504A>G
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40087
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41430
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asn151Ser
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

12-54115971-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54115971
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54115971
    reference: chr 12
allele count: 4
allele frequency: 3.303328103063837e-5
allele num: 121090
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.503-4G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.352-4G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.451-4G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.451-4G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.451-4G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.503-4G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.513-4G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.451-4G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.451-4G>A
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11357
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5056
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 9.25e1
  variant carriers: 0
hgvs: c.451-4G>A
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP

12-54115972-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54115972
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54115972
    reference: chr 12
allele count: 1
allele frequency: 8.261049153242462e-6
allele num: 121050
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.352-5T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.451-5T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.451-5T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.451-5T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.451-5T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.451-5T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.503-5T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.513-5T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.503-5T>C
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2940
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
hgvs: c.451-5T>C
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

12-54115978-CAGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54115978
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54115975
    reference: chr 12
allele count: 6
allele frequency: 4.958022079724995e-5
allele num: 121016
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.451-14_451-12delTCT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.503-14_503-12delTCT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.513-14_513-12delTCT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.451-14_451-12delTCT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.451-14_451-12delTCT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.352-14_352-12delTCT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.451-14_451-12delTCT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.503-14_503-12delTCT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.451-14_451-12delTCT
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2482
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: CAGA
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum

12-54115996-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54115996
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54115996
    reference: chr 12
allele count: 1
allele frequency: 8.277323444690924e-6
allele num: 120812
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.503-29C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.451-29C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.451-29C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.352-29C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.451-29C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.451-29C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.513-29C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.451-29C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.503-29C>T
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2932
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-54116011-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54116011
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54116011
    reference: chr 12
allele count: 2
allele frequency: 1.658264791721942e-5
allele num: 120608
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.451-44G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.451-44G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.352-44G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.451-44G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.513-44G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.451-44G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.503-44G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.451-44G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.503-44G>A
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4900
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2437
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2573
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

12-54116016-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54116016
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54116016
    reference: chr 12
allele count: 1
allele frequency: 8.295175525914129e-6
allele num: 120552
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.352-49G>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.451-49G>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.513-49G>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.451-49G>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.503-49G>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.503-49G>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.451-49G>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.451-49G>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.451-49G>C
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10241
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37746
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-54116017-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54116017
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54116017
    reference: chr 12
allele count: 1
allele frequency: 8.297102651754007e-6
allele num: 120524
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.451-50A>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.451-50A>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.451-50A>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.451-50A>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.451-50A>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.513-50A>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.503-50A>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.503-50A>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.352-50A>G
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37392
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2926
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-54116023-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54116023
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54116023
    reference: chr 12
allele count: 1
allele frequency: 8.311308366163002e-6
allele num: 120318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.503-56G>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.513-56G>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.451-56G>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.503-56G>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.451-56G>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.451-56G>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.451-56G>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.451-56G>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.352-56G>T
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2937
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

12-54116635-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54116635
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54116635
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 10418
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.503-668C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.451-668C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.352-668C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.451-668C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.451-668C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.503-668C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.451-668C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.451-668C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.512+49C>T
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2343
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD

12-54116646-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54116646
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54116646
    reference: chr 12
allele count: 6
allele frequency: 5.753739930955121e-4
allele num: 10428
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.451-679G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.352-679G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.451-679G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.512+38G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.451-679G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.503-679G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.503-679G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.451-679G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.451-679G>A
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3214
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

12-54116656-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54116656
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54116656
    reference: chr 12
allele count: 6
allele frequency: 5.709935287400076e-4
allele num: 10508
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.512+28T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.451-689T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.451-689T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.503-689T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.451-689T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.451-689T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.352-689T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.503-689T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.451-689T>C
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

12-54116695-A-ACAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54116695
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54116698
    reference: chr 12
allele count: 1
allele frequency: 9.457159069415548e-5
allele num: 10574
alternate allele: ACAT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.450+679_450+681dupATG
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.498_500dupATG
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.450+679_450+681dupATG
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.450+679_450+681dupATG
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.502+679_502+681dupATG
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.351+679_351+681dupATG
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.502+679_502+681dupATG
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.450+679_450+681dupATG
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.450+679_450+681dupATG
  variant of: http://identifiers.org/hgnc/29306
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

12-54116725-CTCAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAAACCCAAAAAACAAACAAAAAAACCCCAAACAGTA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54116725
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54116651
    reference: chr 12
allele count: 1
allele frequency: 1.808972503617945e-4
allele num: 5528
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  variant of: http://identifiers.org/hgnc/29306
canonical: false
consequence: splice region
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: CTCAAAAAAAAAAAAAAAAAAGAAAAGAAAAGAAAAGAAAAACCCAAAAAACAAACAAAAAAACCCCAAACAGTA
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/12-54116727-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54116727
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54116728
    reference: chr 12
allele count: 9
allele frequency: 2.406417112299465e-2
allele num: 374
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.450+649dupT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.450+649dupT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.476-8dupT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.502+649dupT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.502+649dupT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.450+649dupT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.450+649dupT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.351+649dupT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.450+649dupT
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.5e0
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/12-54116727-C-CAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54116727
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54116729
    reference: chr 12
allele count: 5
allele frequency: 1.336898395721925e-2
allele num: 374
alternate allele: CAA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.450+648_450+649dupTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.450+648_450+649dupTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.351+648_351+649dupTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.450+648_450+649dupTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.502+648_502+649dupTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.450+648_450+649dupTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.450+648_450+649dupTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.476-9_476-8dupTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.502+648_502+649dupTT
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 7.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 1
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/12-54116727-C-CAAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54116727
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54116730
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 374
alternate allele: CAAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.450+647_450+649dupTTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.450+647_450+649dupTTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.351+647_351+649dupTTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.476-10_476-8dupTTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.450+647_450+649dupTTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.450+647_450+649dupTTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.450+647_450+649dupTTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.502+647_502+649dupTTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.502+647_502+649dupTTT
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-54116727-C-CAAAAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54116727
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54116732
    reference: chr 12
allele count: 3
allele frequency: 8.021390374331552e-3
allele num: 374
alternate allele: CAAAAA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.502+645_502+649dupTTTTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.450+645_450+649dupTTTTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.450+645_450+649dupTTTTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.476-12_476-8dupTTTTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.502+645_502+649dupTTTTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.351+645_351+649dupTTTTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.450+645_450+649dupTTTTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.450+645_450+649dupTTTTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.450+645_450+649dupTTTTT
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 1
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/12-54116727-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54116727
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54116726
    reference: chr 12
allele count: 14
allele frequency: 3.74331550802139e-2
allele num: 374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.450+649delT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.502+649delT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.502+649delT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.450+649delT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.351+649delT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.476-8delT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.450+649delT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.450+649delT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.450+649delT
  variant of: http://identifiers.org/hgnc/29306
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
hgvs: n.476-8delT
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: CA
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/12-54116727-C-CAAAAAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54116727
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54116733
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 374
alternate allele: CAAAAAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.450+644_450+649dupTTTTTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.351+644_351+649dupTTTTTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.502+644_502+649dupTTTTTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.502+644_502+649dupTTTTTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.476-13_476-8dupTTTTTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.450+644_450+649dupTTTTTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.450+644_450+649dupTTTTTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.450+644_450+649dupTTTTTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.450+644_450+649dupTTTTTT
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.25e1
  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: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

12-54116738-A-AAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54116738
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54116740
    reference: chr 12
allele count: 2
allele frequency: 1.919385796545106e-4
allele num: 10420
alternate allele: AAG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.351+638_351+639insCT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.450+638_450+639insCT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.502+638_502+639insCT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.476-19_476-18insCT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.502+638_502+639insCT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.450+638_450+639insCT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.450+638_450+639insCT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.450+638_450+639insCT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.450+638_450+639insCT
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 834
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

12-54116741-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54116741
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54116741
    reference: chr 12
allele count: 6
allele frequency: 6.00120024004801e-4
allele num: 9998
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.450+636T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.351+636T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.450+636T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.502+636T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.450+636T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.476-21T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.450+636T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.450+636T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.502+636T>C
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.25e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

12-54116741-AAAAAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54116741
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54116736
    reference: chr 12
allele count: 2
allele frequency: 2.000400080016003e-4
allele num: 9998
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.450+631_450+635delCTTTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.351+631_351+635delCTTTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.450+631_450+635delCTTTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.450+631_450+635delCTTTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.502+631_502+635delCTTTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.476-26_476-22delCTTTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.502+631_502+635delCTTTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.450+631_450+635delCTTTT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.450+631_450+635delCTTTT
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: AAAAAG
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ

12-54116746-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54116746
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54116746
    reference: chr 12
allele count: 53
allele frequency: 1.882102272727273e-2
allele num: 2816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.502+631C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.476-26C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.351+631C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.450+631C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.450+631C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.502+631C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.450+631C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.450+631C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.450+631C>T
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 2.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 2.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.25e1
  variant carriers: 3
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-54116751-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54116751
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54116751
    reference: chr 12
allele count: 13
allele frequency: 1.722767028889478e-3
allele num: 7546
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.476-31C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.502+626C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.502+626C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.450+626C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.450+626C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.450+626C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.351+626C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.450+626C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.450+626C>T
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 2.25e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

12-54116756-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54116756
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54116756
    reference: chr 12
allele count: 2
allele frequency: 2.369106846718787e-4
allele num: 8442
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.351+621C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.450+621C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.502+621C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.502+621C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.450+621C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.450+621C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.476-36C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.450+621C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.450+621C>T
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

12-54116758-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54116758
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54116758
    reference: chr 12
allele count: 1
allele frequency: 1.047559187094071e-4
allele num: 9546
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.450+619T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.450+619T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.502+619T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.450+619T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.450+619T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.351+619T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.450+619T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.476-38T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.502+619T>C
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/12-54116766-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54116766
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54116766
    reference: chr 12
allele count: 7
allele frequency: 8.325404376784015e-4
allele num: 8408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.502+611T>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.450+611T>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.476-46T>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.502+611T>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.450+611T>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.450+611T>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.351+611T>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.450+611T>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.450+611T>G
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum

14-71462515-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 71462515
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 71462515
    reference: chr 14
allele count: 1
allele frequency: 8.261322141995606e-6
allele num: 121046
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000100731
  ensembl transcript: ENST00000556846
  gene symbol: PCNX
  hgvsc: ENST00000556846.1:n.272-13836C>T
  variant of: http://identifiers.org/hgnc/19740
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000100731
  ensembl transcript: ENST00000554879
  gene symbol: PCNX
  hgvsc: ENST00000554879.1:n.2948C>T
  variant of: http://identifiers.org/hgnc/19740
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000100731
  ensembl protein: ENSP00000396617
  ensembl transcript: ENST00000439984
  gene symbol: PCNX
  hgvsc: ENST00000439984.3:c.2312-13836C>T
  variant of: http://identifiers.org/hgnc/19740
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000100731
  ensembl protein: ENSP00000304192
  ensembl transcript: ENST00000304743
  gene symbol: PCNX
  hgvsc: ENST00000304743.2:c.2502C>T
  hgvsp: ENST00000304743.2:c.2502C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19740
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000100731
  ensembl protein: ENSP00000238570
  ensembl transcript: ENST00000238570
  gene symbol: PCNX
  hgvsc: ENST00000238570.5:c.2502C>T
  hgvsp: ENST00000238570.5:c.2502C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19740
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15290
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6777
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43699
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2373
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg834Arg
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-54117297-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54117297
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54117297
    reference: chr 12
allele count: 1
allele frequency: 9.476157986505951e-6
allele num: 105528
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.450+80T>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.450+80T>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.502+80T>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.502+80T>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.351+80T>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.475+80T>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.450+80T>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.450+80T>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.450+80T>G
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16402
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9582
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6924
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6153
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4135
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2830
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

12-54117308-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54117308
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54117308
    reference: chr 12
allele count: 1
allele frequency: 9.229349330872173e-6
allele num: 108350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.450+69C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.450+69C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.351+69C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.450+69C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.450+69C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.475+69C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.450+69C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.502+69C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.502+69C>T
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10894
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5985
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6989
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

12-54117312-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54117312
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54117312
    reference: chr 12
allele count: 2
allele frequency: 1.819836214740673e-5
allele num: 109900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.351+65C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.475+65C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.450+65C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.450+65C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.502+65C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.450+65C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.450+65C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.450+65C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.502+65C>T
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9186
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8676
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3914
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2770
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS

12-54117324-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54117324
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54117324
    reference: chr 12
allele count: 1
allele frequency: 8.637965586345104e-6
allele num: 115768
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.450+53T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.475+53T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.450+53T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.502+53T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.450+53T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.502+53T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.450+53T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.351+53T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.450+53T>C
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2716
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP

12-54117334-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54117334
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54117334
    reference: chr 12
allele count: 1
allele frequency: 8.424599831508003e-6
allele num: 118700
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.450+43G>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.475+43G>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.450+43G>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.450+43G>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.450+43G>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.351+43G>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.502+43G>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000553154
  gene symbol: CALCOCO1
  hgvsc: ENST00000553154.1:n.566G>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.450+43G>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.502+43G>C
  variant of: http://identifiers.org/hgnc/29306
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1518
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

12-54117338-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54117338
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54117338
    reference: chr 12
allele count: 1
allele frequency: 8.367500627562547e-6
allele num: 119510
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000553154
  gene symbol: CALCOCO1
  hgvsc: ENST00000553154.1:n.562G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.450+39G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.502+39G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.450+39G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.475+39G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.351+39G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.450+39G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.450+39G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.502+39G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.450+39G>A
  variant of: http://identifiers.org/hgnc/29306
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13737
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40435
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

12-54117341-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54117341
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54117341
    reference: chr 12
allele count: 1
allele frequency: 8.337919188887221e-6
allele num: 119934
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000553154
  gene symbol: CALCOCO1
  hgvsc: ENST00000553154.1:n.559G>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.450+36G>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.450+36G>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.502+36G>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.475+36G>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.450+36G>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.502+36G>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.351+36G>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.450+36G>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.450+36G>C
  variant of: http://identifiers.org/hgnc/29306
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1478
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

12-54117344-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54117344
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54117344
    reference: chr 12
allele count: 1
allele frequency: 8.317945134833891e-6
allele num: 120222
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.450+33A>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000553154
  gene symbol: CALCOCO1
  hgvsc: ENST00000553154.1:n.556A>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.450+33A>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.475+33A>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.351+33A>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.450+33A>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.502+33A>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.450+33A>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.502+33A>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.450+33A>C
  variant of: http://identifiers.org/hgnc/29306
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

12-54117353-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54117353
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54117353
    reference: chr 12
allele count: 1
allele frequency: 8.278008642241022e-6
allele num: 120802
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.475+24T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000553154
  gene symbol: CALCOCO1
  hgvsc: ENST00000553154.1:n.547T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.450+24T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.502+24T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.450+24T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.450+24T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.450+24T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.450+24T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.502+24T>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.351+24T>C
  variant of: http://identifiers.org/hgnc/29306
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

12-54117357-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54117357
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54117357
    reference: chr 12
allele count: 1
allele frequency: 8.268152729317216e-6
allele num: 120946
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.450+20G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.475+20G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.351+20G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.502+20G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.450+20G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.502+20G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.450+20G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000553154
  gene symbol: CALCOCO1
  hgvsc: ENST00000553154.1:n.543G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.450+20G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.450+20G>A
  variant of: http://identifiers.org/hgnc/29306
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49324
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

12-54117400-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54117400
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54117400
    reference: chr 12
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.479G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.427G>A
  hgvsp: ENSP00000262059.4:p.Val143Ile
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.452G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447117
  ensembl transcript: ENST00000549784
  gene symbol: CALCOCO1
  hgvsc: ENST00000549784.1:c.427G>A
  hgvsp: ENSP00000447117.1:p.Val143Ile
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.427G>A
  hgvsp: ENSP00000448621.1:p.Val143Ile
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.427G>A
  hgvsp: ENSP00000447647.1:p.Val143Ile
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.427G>A
  hgvsp: ENSP00000449960.1:p.Val143Ile
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.328G>A
  hgvsp: ENSP00000397189.2:p.Val110Ile
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.427G>A
  hgvsp: ENSP00000450083.1:p.Val143Ile
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000553154
  gene symbol: CALCOCO1
  hgvsc: ENST00000553154.1:n.500G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.479G>A
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val143Ile
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

12-54117412-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54117412
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54117412
    reference: chr 12
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.415A>G
  hgvsp: ENSP00000450083.1:p.Ile139Val
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447117
  ensembl transcript: ENST00000549784
  gene symbol: CALCOCO1
  hgvsc: ENST00000549784.1:c.415A>G
  hgvsp: ENSP00000447117.1:p.Ile139Val
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.415A>G
  hgvsp: ENSP00000449960.1:p.Ile139Val
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.415A>G
  hgvsp: ENSP00000448621.1:p.Ile139Val
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449058
  ensembl transcript: ENST00000549173
  gene symbol: CALCOCO1
  hgvsc: ENST00000549173.1:c.475A>G
  hgvsp: ENSP00000449058.1:p.Ile159Val
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.316A>G
  hgvsp: ENSP00000397189.2:p.Ile106Val
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.467A>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000553154
  gene symbol: CALCOCO1
  hgvsc: ENST00000553154.1:n.488A>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.415A>G
  hgvsp: ENSP00000447647.1:p.Ile139Val
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.467A>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.415A>G
  hgvsp: ENSP00000262059.4:p.Ile139Val
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.440A>G
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile139Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

12-54117414-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54117414
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54117414
    reference: chr 12
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.413A>T
  hgvsp: ENSP00000262059.4:p.Asp138Val
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.413A>T
  hgvsp: ENSP00000450083.1:p.Asp138Val
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447117
  ensembl transcript: ENST00000549784
  gene symbol: CALCOCO1
  hgvsc: ENST00000549784.1:c.413A>T
  hgvsp: ENSP00000447117.1:p.Asp138Val
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449058
  ensembl transcript: ENST00000549173
  gene symbol: CALCOCO1
  hgvsc: ENST00000549173.1:c.473A>T
  hgvsp: ENSP00000449058.1:p.Asp158Val
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.314A>T
  hgvsp: ENSP00000397189.2:p.Asp105Val
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.465A>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000553154
  gene symbol: CALCOCO1
  hgvsc: ENST00000553154.1:n.486A>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.413A>T
  hgvsp: ENSP00000447647.1:p.Asp138Val
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.465A>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.413A>T
  hgvsp: ENSP00000448621.1:p.Asp138Val
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.438A>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.413A>T
  hgvsp: ENSP00000449960.1:p.Asp138Val
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp138Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

12-54117443-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54117443
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54117443
    reference: chr 12
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.384G>A
  hgvsp: ENST00000262059.4:c.384G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449058
  ensembl transcript: ENST00000549173
  gene symbol: CALCOCO1
  hgvsc: ENST00000549173.1:c.444G>A
  hgvsp: ENST00000549173.1:c.444G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.436G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.384G>A
  hgvsp: ENST00000546619.1:c.384G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.384G>A
  hgvsp: ENST00000548263.1:c.384G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.285G>A
  hgvsp: ENST00000430117.2:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.409G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.384G>A
  hgvsp: ENST00000550804.1:c.384G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.384G>A
  hgvsp: ENST00000551900.1:c.384G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000446820
  ensembl transcript: ENST00000548177
  gene symbol: CALCOCO1
  hgvsc: ENST00000548177.1:c.384G>A
  hgvsp: ENST00000548177.1:c.384G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.436G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000553154
  gene symbol: CALCOCO1
  hgvsc: ENST00000553154.1:n.457G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447117
  ensembl transcript: ENST00000549784
  gene symbol: CALCOCO1
  hgvsc: ENST00000549784.1:c.384G>A
  hgvsp: ENST00000549784.1:c.384G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val128Val
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

12-54117448-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54117448
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54117448
    reference: chr 12
allele count: 92
allele frequency: 7.581251236073571e-4
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.379C>T
  hgvsp: ENST00000262059.4:c.379C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.379C>T
  hgvsp: ENST00000550804.1:c.379C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000446820
  ensembl transcript: ENST00000548177
  gene symbol: CALCOCO1
  hgvsc: ENST00000548177.1:c.379C>T
  hgvsp: ENST00000548177.1:c.379C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.431C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000553154
  gene symbol: CALCOCO1
  hgvsc: ENST00000553154.1:n.452C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.431C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447117
  ensembl transcript: ENST00000549784
  gene symbol: CALCOCO1
  hgvsc: ENST00000549784.1:c.379C>T
  hgvsp: ENST00000549784.1:c.379C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.280C>T
  hgvsp: ENST00000430117.2:c.280C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.379C>T
  hgvsp: ENST00000546619.1:c.379C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.379C>T
  hgvsp: ENST00000548263.1:c.379C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449058
  ensembl transcript: ENST00000549173
  gene symbol: CALCOCO1
  hgvsc: ENST00000549173.1:c.439C>T
  hgvsp: ENST00000549173.1:c.439C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.379C>T
  hgvsp: ENST00000551900.1:c.379C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.404C>T
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15060
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40761
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu127Leu
num of homozygotes: 1
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-54117454-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54117454
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54117454
    reference: chr 12
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447117
  ensembl transcript: ENST00000549784
  gene symbol: CALCOCO1
  hgvsc: ENST00000549784.1:c.373G>A
  hgvsp: ENSP00000447117.1:p.Asp125Asn
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.425G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.373G>A
  hgvsp: ENSP00000448621.1:p.Asp125Asn
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.398G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.373G>A
  hgvsp: ENSP00000449960.1:p.Asp125Asn
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000553154
  gene symbol: CALCOCO1
  hgvsc: ENST00000553154.1:n.446G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.274G>A
  hgvsp: ENSP00000397189.2:p.Asp92Asn
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449058
  ensembl transcript: ENST00000549173
  gene symbol: CALCOCO1
  hgvsc: ENST00000549173.1:c.433G>A
  hgvsp: ENSP00000449058.1:p.Asp145Asn
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.373G>A
  hgvsp: ENSP00000447647.1:p.Asp125Asn
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.373G>A
  hgvsp: ENSP00000262059.4:p.Asp125Asn
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.373G>A
  hgvsp: ENSP00000450083.1:p.Asp125Asn
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000446820
  ensembl transcript: ENST00000548177
  gene symbol: CALCOCO1
  hgvsc: ENST00000548177.1:c.373G>A
  hgvsp: ENSP00000446820.1:p.Asp125Asn
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.425G>A
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp125Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum

12-54117461-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54117461
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54117461
    reference: chr 12
allele count: 2
allele frequency: 1.648315421639085e-5
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.366G>A
  hgvsp: ENST00000546619.1:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.267G>A
  hgvsp: ENST00000430117.2:c.267G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449058
  ensembl transcript: ENST00000549173
  gene symbol: CALCOCO1
  hgvsc: ENST00000549173.1:c.426G>A
  hgvsp: ENST00000549173.1:c.426G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000553154
  gene symbol: CALCOCO1
  hgvsc: ENST00000553154.1:n.439G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.366G>A
  hgvsp: ENST00000550804.1:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.418G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447117
  ensembl transcript: ENST00000549784
  gene symbol: CALCOCO1
  hgvsc: ENST00000549784.1:c.366G>A
  hgvsp: ENST00000549784.1:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.366G>A
  hgvsp: ENST00000262059.4:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.366G>A
  hgvsp: ENST00000551900.1:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.391G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.366G>A
  hgvsp: ENST00000548263.1:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000446820
  ensembl transcript: ENST00000548177
  gene symbol: CALCOCO1
  hgvsc: ENST00000548177.1:c.366G>A
  hgvsp: ENST00000548177.1:c.366G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.418G>A
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg122Arg
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

12-54117465-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54117465
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54117465
    reference: chr 12
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000553154
  gene symbol: CALCOCO1
  hgvsc: ENST00000553154.1:n.435C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.414C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.263C>T
  hgvsp: ENSP00000397189.2:p.Pro88Leu
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.414C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.362C>T
  hgvsp: ENSP00000448621.1:p.Pro121Leu
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000446820
  ensembl transcript: ENST00000548177
  gene symbol: CALCOCO1
  hgvsc: ENST00000548177.1:c.362C>T
  hgvsp: ENSP00000446820.1:p.Pro121Leu
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.387C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.362C>T
  hgvsp: ENSP00000262059.4:p.Pro121Leu
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.362C>T
  hgvsp: ENSP00000450083.1:p.Pro121Leu
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447117
  ensembl transcript: ENST00000549784
  gene symbol: CALCOCO1
  hgvsc: ENST00000549784.1:c.362C>T
  hgvsp: ENSP00000447117.1:p.Pro121Leu
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.362C>T
  hgvsp: ENSP00000449960.1:p.Pro121Leu
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449058
  ensembl transcript: ENST00000549173
  gene symbol: CALCOCO1
  hgvsc: ENST00000549173.1:c.422C>T
  hgvsp: ENSP00000449058.1:p.Pro141Leu
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.362C>T
  hgvsp: ENSP00000447647.1:p.Pro121Leu
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro121Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

12-54117469-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54117469
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54117469
    reference: chr 12
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.260-1G>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.358G>C
  hgvsp: ENSP00000449960.1:p.Glu120Gln
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448026
  ensembl transcript: ENST00000552623
  gene symbol: CALCOCO1
  hgvsc: ENST00000552623.1:c.358G>C
  hgvsp: ENSP00000448026.1:p.Glu120Gln
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.410G>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449058
  ensembl transcript: ENST00000549173
  gene symbol: CALCOCO1
  hgvsc: ENST00000549173.1:c.418G>C
  hgvsp: ENSP00000449058.1:p.Glu140Gln
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000553154
  gene symbol: CALCOCO1
  hgvsc: ENST00000553154.1:n.431G>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.410G>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.358G>C
  hgvsp: ENSP00000450083.1:p.Glu120Gln
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.358G>C
  hgvsp: ENSP00000262059.4:p.Glu120Gln
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447117
  ensembl transcript: ENST00000549784
  gene symbol: CALCOCO1
  hgvsc: ENST00000549784.1:c.358G>C
  hgvsp: ENSP00000447117.1:p.Glu120Gln
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000446820
  ensembl transcript: ENST00000548177
  gene symbol: CALCOCO1
  hgvsc: ENST00000548177.1:c.358G>C
  hgvsp: ENSP00000446820.1:p.Glu120Gln
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.383G>C
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.358G>C
  hgvsp: ENSP00000447647.1:p.Glu120Gln
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.358G>C
  hgvsp: ENSP00000448621.1:p.Glu120Gln
  variant of: http://identifiers.org/hgnc/29306
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15159
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.260-1G>C
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-54117471-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54117471
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54117471
    reference: chr 12
allele count: 11
allele frequency: 9.066930431915596e-5
allele num: 121320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.356G>A
  hgvsp: ENSP00000447647.1:p.Arg119Gln
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.356G>A
  hgvsp: ENSP00000449960.1:p.Arg119Gln
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.408G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.260-3G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.408G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447117
  ensembl transcript: ENST00000549784
  gene symbol: CALCOCO1
  hgvsc: ENST00000549784.1:c.356G>A
  hgvsp: ENSP00000447117.1:p.Arg119Gln
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.356G>A
  hgvsp: ENSP00000262059.4:p.Arg119Gln
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.356G>A
  hgvsp: ENSP00000448621.1:p.Arg119Gln
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000553154
  gene symbol: CALCOCO1
  hgvsc: ENST00000553154.1:n.429G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000446820
  ensembl transcript: ENST00000548177
  gene symbol: CALCOCO1
  hgvsc: ENST00000548177.1:c.356G>A
  hgvsp: ENSP00000446820.1:p.Arg119Gln
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.356G>A
  hgvsp: ENSP00000450083.1:p.Arg119Gln
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.381G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448026
  ensembl transcript: ENST00000552623
  gene symbol: CALCOCO1
  hgvsc: ENST00000552623.1:c.356G>A
  hgvsp: ENSP00000448026.1:p.Arg119Gln
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449058
  ensembl transcript: ENST00000549173
  gene symbol: CALCOCO1
  hgvsc: ENST00000549173.1:c.416G>A
  hgvsp: ENSP00000449058.1:p.Arg139Gln
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3392
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg119Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

12-54117472-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54117472
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54117472
    reference: chr 12
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000553154
  gene symbol: CALCOCO1
  hgvsc: ENST00000553154.1:n.428C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448026
  ensembl transcript: ENST00000552623
  gene symbol: CALCOCO1
  hgvsc: ENST00000552623.1:c.355C>T
  hgvsp: ENSP00000448026.1:p.Arg119Ter
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.260-4C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000446820
  ensembl transcript: ENST00000548177
  gene symbol: CALCOCO1
  hgvsc: ENST00000548177.1:c.355C>T
  hgvsp: ENSP00000446820.1:p.Arg119Ter
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449058
  ensembl transcript: ENST00000549173
  gene symbol: CALCOCO1
  hgvsc: ENST00000549173.1:c.415C>T
  hgvsp: ENSP00000449058.1:p.Arg139Ter
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.407C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.355C>T
  hgvsp: ENSP00000449960.1:p.Arg119Ter
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.407C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447117
  ensembl transcript: ENST00000549784
  gene symbol: CALCOCO1
  hgvsc: ENST00000549784.1:c.355C>T
  hgvsp: ENSP00000447117.1:p.Arg119Ter
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.355C>T
  hgvsp: ENSP00000448621.1:p.Arg119Ter
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.355C>T
  hgvsp: ENSP00000450083.1:p.Arg119Ter
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.355C>T
  hgvsp: ENSP00000262059.4:p.Arg119Ter
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.380C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.355C>T
  hgvsp: ENSP00000447647.1:p.Arg119Ter
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg119Ter
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-54117476-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54117476
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54117476
    reference: chr 12
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.351G>A
  hgvsp: ENST00000546619.1:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.351G>A
  hgvsp: ENST00000550804.1:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448026
  ensembl transcript: ENST00000552623
  gene symbol: CALCOCO1
  hgvsc: ENST00000552623.1:c.351G>A
  hgvsp: ENST00000552623.1:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449058
  ensembl transcript: ENST00000549173
  gene symbol: CALCOCO1
  hgvsc: ENST00000549173.1:c.411G>A
  hgvsp: ENST00000549173.1:c.411G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.351G>A
  hgvsp: ENST00000548263.1:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447117
  ensembl transcript: ENST00000549784
  gene symbol: CALCOCO1
  hgvsc: ENST00000549784.1:c.351G>A
  hgvsp: ENST00000549784.1:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.376G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.403G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.260-8G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000553154
  gene symbol: CALCOCO1
  hgvsc: ENST00000553154.1:n.424G>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000446820
  ensembl transcript: ENST00000548177
  gene symbol: CALCOCO1
  hgvsc: ENST00000548177.1:c.351G>A
  hgvsp: ENST00000548177.1:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.351G>A
  hgvsp: ENST00000262059.4:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.351G>A
  hgvsp: ENST00000551900.1:c.351G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.403G>A
  variant of: http://identifiers.org/hgnc/29306
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.260-8G>A
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum

12-54117479-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54117479
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54117478
    reference: chr 12
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450012
  ensembl transcript: ENST00000549349
  gene symbol: CALCOCO1
  hgvsc: ENST00000549349.1:c.347delT
  hgvsp: ENST00000549349.1:c.347delT(p.%3D)
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.347delT
  hgvsp: ENSP00000448621.1:p.Phe116SerfsTer13
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447117
  ensembl transcript: ENST00000549784
  gene symbol: CALCOCO1
  hgvsc: ENST00000549784.1:c.347delT
  hgvsp: ENSP00000447117.1:p.Phe116SerfsTer13
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448026
  ensembl transcript: ENST00000552623
  gene symbol: CALCOCO1
  hgvsc: ENST00000552623.1:c.347delT
  hgvsp: ENSP00000448026.1:p.Phe116SerfsTer?
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.347delT
  hgvsp: ENSP00000449960.1:p.Phe116SerfsTer13
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000446820
  ensembl transcript: ENST00000548177
  gene symbol: CALCOCO1
  hgvsc: ENST00000548177.1:c.347delT
  hgvsp: ENSP00000446820.1:p.Phe116SerfsTer13
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.347delT
  hgvsp: ENSP00000262059.4:p.Phe116SerfsTer13
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.347delT
  hgvsp: ENSP00000450083.1:p.Phe116SerfsTer13
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.347delT
  hgvsp: ENSP00000447647.1:p.Phe116SerfsTer13
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.260-12delT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.372delT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.399delT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000553154
  gene symbol: CALCOCO1
  hgvsc: ENST00000553154.1:n.420delT
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449058
  ensembl transcript: ENST00000549173
  gene symbol: CALCOCO1
  hgvsc: ENST00000549173.1:c.407delT
  hgvsp: ENSP00000449058.1:p.Phe136SerfsTer13
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.399delT
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15199
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40521
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe116SerfsTer13
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: GA
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

12-54117483-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54117483
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54117483
    reference: chr 12
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.260-15C>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.344C>G
  hgvsp: ENSP00000450083.1:p.Pro115Arg
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449058
  ensembl transcript: ENST00000549173
  gene symbol: CALCOCO1
  hgvsc: ENST00000549173.1:c.404C>G
  hgvsp: ENSP00000449058.1:p.Pro135Arg
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.344C>G
  hgvsp: ENSP00000449960.1:p.Pro115Arg
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447117
  ensembl transcript: ENST00000549784
  gene symbol: CALCOCO1
  hgvsc: ENST00000549784.1:c.344C>G
  hgvsp: ENSP00000447117.1:p.Pro115Arg
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448026
  ensembl transcript: ENST00000552623
  gene symbol: CALCOCO1
  hgvsc: ENST00000552623.1:c.344C>G
  hgvsp: ENSP00000448026.1:p.Pro115Arg
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000553154
  gene symbol: CALCOCO1
  hgvsc: ENST00000553154.1:n.417C>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.344C>G
  hgvsp: ENSP00000448621.1:p.Pro115Arg
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.344C>G
  hgvsp: ENSP00000262059.4:p.Pro115Arg
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.396C>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450012
  ensembl transcript: ENST00000549349
  gene symbol: CALCOCO1
  hgvsc: ENST00000549349.1:c.344C>G
  hgvsp: ENSP00000450012.1:p.Pro115Arg
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000446820
  ensembl transcript: ENST00000548177
  gene symbol: CALCOCO1
  hgvsc: ENST00000548177.1:c.344C>G
  hgvsp: ENSP00000446820.1:p.Pro115Arg
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.344C>G
  hgvsp: ENSP00000447647.1:p.Pro115Arg
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.396C>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.369C>G
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40474
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro115Arg
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP

12-54117484-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54117484
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54117484
    reference: chr 12
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.395C>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.343C>G
  hgvsp: ENSP00000447647.1:p.Pro115Ala
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.260-16C>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.343C>G
  hgvsp: ENSP00000448621.1:p.Pro115Ala
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.343C>G
  hgvsp: ENSP00000449960.1:p.Pro115Ala
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.343C>G
  hgvsp: ENSP00000262059.4:p.Pro115Ala
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448026
  ensembl transcript: ENST00000552623
  gene symbol: CALCOCO1
  hgvsc: ENST00000552623.1:c.343C>G
  hgvsp: ENSP00000448026.1:p.Pro115Ala
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.343C>G
  hgvsp: ENSP00000450083.1:p.Pro115Ala
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447117
  ensembl transcript: ENST00000549784
  gene symbol: CALCOCO1
  hgvsc: ENST00000549784.1:c.343C>G
  hgvsp: ENSP00000447117.1:p.Pro115Ala
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000553154
  gene symbol: CALCOCO1
  hgvsc: ENST00000553154.1:n.416C>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449058
  ensembl transcript: ENST00000549173
  gene symbol: CALCOCO1
  hgvsc: ENST00000549173.1:c.403C>G
  hgvsp: ENSP00000449058.1:p.Pro135Ala
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000446820
  ensembl transcript: ENST00000548177
  gene symbol: CALCOCO1
  hgvsc: ENST00000548177.1:c.343C>G
  hgvsp: ENSP00000446820.1:p.Pro115Ala
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.395C>G
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450012
  ensembl transcript: ENST00000549349
  gene symbol: CALCOCO1
  hgvsc: ENST00000549349.1:c.343C>G
  hgvsp: ENSP00000450012.1:p.Pro115Ala
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.368C>G
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro115Ala
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

12-54117484-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54117484
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54117484
    reference: chr 12
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000553154
  gene symbol: CALCOCO1
  hgvsc: ENST00000553154.1:n.416C>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.260-16C>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.343C>A
  hgvsp: ENSP00000447647.1:p.Pro115Thr
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447117
  ensembl transcript: ENST00000549784
  gene symbol: CALCOCO1
  hgvsc: ENST00000549784.1:c.343C>A
  hgvsp: ENSP00000447117.1:p.Pro115Thr
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449058
  ensembl transcript: ENST00000549173
  gene symbol: CALCOCO1
  hgvsc: ENST00000549173.1:c.403C>A
  hgvsp: ENSP00000449058.1:p.Pro135Thr
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.343C>A
  hgvsp: ENSP00000450083.1:p.Pro115Thr
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448026
  ensembl transcript: ENST00000552623
  gene symbol: CALCOCO1
  hgvsc: ENST00000552623.1:c.343C>A
  hgvsp: ENSP00000448026.1:p.Pro115Thr
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.343C>A
  hgvsp: ENSP00000448621.1:p.Pro115Thr
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000446820
  ensembl transcript: ENST00000548177
  gene symbol: CALCOCO1
  hgvsc: ENST00000548177.1:c.343C>A
  hgvsp: ENSP00000446820.1:p.Pro115Thr
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.343C>A
  hgvsp: ENSP00000262059.4:p.Pro115Thr
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.343C>A
  hgvsp: ENSP00000449960.1:p.Pro115Thr
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450012
  ensembl transcript: ENST00000549349
  gene symbol: CALCOCO1
  hgvsc: ENST00000549349.1:c.343C>A
  hgvsp: ENSP00000450012.1:p.Pro115Thr
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.368C>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.395C>A
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.395C>A
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro115Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP

12-54117486-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54117486
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54117486
    reference: chr 12
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449058
  ensembl transcript: ENST00000549173
  gene symbol: CALCOCO1
  hgvsc: ENST00000549173.1:c.401C>T
  hgvsp: ENSP00000449058.1:p.Pro134Leu
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.393C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000446820
  ensembl transcript: ENST00000548177
  gene symbol: CALCOCO1
  hgvsc: ENST00000548177.1:c.341C>T
  hgvsp: ENSP00000446820.1:p.Pro114Leu
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.341C>T
  hgvsp: ENSP00000449960.1:p.Pro114Leu
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.260-18C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000553154
  gene symbol: CALCOCO1
  hgvsc: ENST00000553154.1:n.414C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448026
  ensembl transcript: ENST00000552623
  gene symbol: CALCOCO1
  hgvsc: ENST00000552623.1:c.341C>T
  hgvsp: ENSP00000448026.1:p.Pro114Leu
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.341C>T
  hgvsp: ENSP00000450083.1:p.Pro114Leu
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.341C>T
  hgvsp: ENSP00000447647.1:p.Pro114Leu
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447117
  ensembl transcript: ENST00000549784
  gene symbol: CALCOCO1
  hgvsc: ENST00000549784.1:c.341C>T
  hgvsp: ENSP00000447117.1:p.Pro114Leu
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.341C>T
  hgvsp: ENSP00000262059.4:p.Pro114Leu
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.366C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.341C>T
  hgvsp: ENSP00000448621.1:p.Pro114Leu
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.393C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450012
  ensembl transcript: ENST00000549349
  gene symbol: CALCOCO1
  hgvsc: ENST00000549349.1:c.341C>T
  hgvsp: ENSP00000450012.1:p.Pro114Leu
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro114Leu
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

12-54117487-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54117487
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 54117487
    reference: chr 12
allele count: 34
allele frequency: 2.803291393895421e-4
allele num: 121286
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449960
  ensembl transcript: ENST00000550804
  gene symbol: CALCOCO1
  hgvsc: ENST00000550804.1:c.340C>T
  hgvsp: ENSP00000449960.1:p.Pro114Ser
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000446820
  ensembl transcript: ENST00000548177
  gene symbol: CALCOCO1
  hgvsc: ENST00000548177.1:c.340C>T
  hgvsp: ENSP00000446820.1:p.Pro114Ser
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000549935
  gene symbol: CALCOCO1
  hgvsc: ENST00000549935.2:n.392C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000553154
  gene symbol: CALCOCO1
  hgvsc: ENST00000553154.1:n.413C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448026
  ensembl transcript: ENST00000552623
  gene symbol: CALCOCO1
  hgvsc: ENST00000552623.1:c.340C>T
  hgvsp: ENSP00000448026.1:p.Pro114Ser
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447117
  ensembl transcript: ENST00000549784
  gene symbol: CALCOCO1
  hgvsc: ENST00000549784.1:c.340C>T
  hgvsp: ENSP00000447117.1:p.Pro114Ser
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450012
  ensembl transcript: ENST00000549349
  gene symbol: CALCOCO1
  hgvsc: ENST00000549349.1:c.340C>T
  hgvsp: ENSP00000450012.1:p.Pro114Ser
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547988
  gene symbol: CALCOCO1
  hgvsc: ENST00000547988.1:n.392C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000449058
  ensembl transcript: ENST00000549173
  gene symbol: CALCOCO1
  hgvsc: ENST00000549173.1:c.400C>T
  hgvsp: ENSP00000449058.1:p.Pro134Ser
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000450083
  ensembl transcript: ENST00000551900
  gene symbol: CALCOCO1
  hgvsc: ENST00000551900.1:c.340C>T
  hgvsp: ENSP00000450083.1:p.Pro114Ser
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000447647
  ensembl transcript: ENST00000548263
  gene symbol: CALCOCO1
  hgvsc: ENST00000548263.1:c.340C>T
  hgvsp: ENSP00000447647.1:p.Pro114Ser
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000448621
  ensembl transcript: ENST00000546619
  gene symbol: CALCOCO1
  hgvsc: ENST00000546619.1:c.340C>T
  hgvsp: ENSP00000448621.1:p.Pro114Ser
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000397189
  ensembl transcript: ENST00000430117
  gene symbol: CALCOCO1
  hgvsc: ENST00000430117.2:c.260-19C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012822
  ensembl transcript: ENST00000547949
  gene symbol: CALCOCO1
  hgvsc: ENST00000547949.2:n.365C>T
  variant of: http://identifiers.org/hgnc/29306
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012822
  ensembl protein: ENSP00000262059
  ensembl transcript: ENST00000262059
  gene symbol: CALCOCO1
  hgvsc: ENST00000262059.4:c.340C>T
  hgvsp: ENSP00000262059.4:p.Pro114Ser
  variant of: http://identifiers.org/hgnc/29306
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15229
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: p.Pro114Ser
num of homozygotes: 0
reference allele: G

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

GenotypeQuality
all individuals: 868
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2515
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 96
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2952
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 726
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
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: 11574
num of homozygotes: 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: 1
allele frequency: 1.499880009599232e-5
allele num: 66672
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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: 4.796e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.21e0

DP
type: SiteQuality
SIO_000300: 1.531761e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

QD
type: SiteQuality
SIO_000300: 1.297e1

VQSLOD
type: SiteQuality
SIO_000300: 9.2e-2

GenotypeQuality
all individuals: 2520
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 868
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2515
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 8.75e1
variant carriers: 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: 16510
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499880009599232e-5
allele num: 66672
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.274e0

FS
type: SiteQuality
SIO_000300: 8.83e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.244e-1

DP
type: SiteQuality
SIO_000300: 1.531773e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.938e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.91e-1

QD
type: SiteQuality
SIO_000300: 1.334e1

GenotypeQuality
all individuals: 41747
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6979
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 728
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2513
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2130
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 868
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2524
bin: 9.75e1
variant carriers: 4

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999490086685263e-5
allele num: 66678
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.664e0

QD
type: SiteQuality
SIO_000300: 1.269e1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.13e-1

DP
type: SiteQuality
SIO_000300: 1.53219e6

FS
type: SiteQuality
SIO_000300: 3.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.69e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.05e-1

GenotypeQuality
all individuals: 728
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41748
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2514
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2956
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2131
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
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: 908
num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.944e1

VQSLOD
type: SiteQuality
SIO_000300: -8.56e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.907e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 3.294e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

QD
type: SiteQuality
SIO_000300: 1.442e1

DP
type: SiteQuality
SIO_000300: 1.532416e6

GenotypeQuality
all individuals: 727
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41741
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2514
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2523
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
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

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.16e-1

MQ
type: SiteQuality
SIO_000300: 5.92e1

QD
type: SiteQuality
SIO_000300: 1.305e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.403e0

DP
type: SiteQuality
SIO_000300: 1.532061e6

MQRankSum
type: SiteQuality
SIO_000300: 3.38e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

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

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6980
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41742
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2952
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2526
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 726
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 868
bin: 9.25e1
variant carriers: 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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.955e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.043e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.51e-1

FS
type: SiteQuality
SIO_000300: 5.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.340000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.32e-1

QD
type: SiteQuality
SIO_000300: 1.129e1

DP
type: SiteQuality
SIO_000300: 1.532435e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e-1

GenotypeQuality
all individuals: 2130
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6983
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2514
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 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: 10384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

South Asian
type: Population
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

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

DP
type: SiteQuality
SIO_000300: 1.532318e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e0

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

VQSLOD
type: SiteQuality
SIO_000300: 7.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 3.612e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.58e-1

QD
type: SiteQuality
SIO_000300: 1.246e1

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

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 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: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.050010500105001e-4
allele num: 66666
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: 8646
num of homozygotes: 0

Latino
type: Population
allele count: 11
allele frequency: 9.504060825989287e-4
allele num: 11574
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 1.534069e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-2

InbreedingCoeff
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SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
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SIO_000300: 2.39e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

QD
type: SiteQuality
SIO_000300: 1.135e1

VQSLOD
type: SiteQuality
SIO_000300: 3.97e0

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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bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
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allele count: 2
allele frequency: 3.00048007681229e-5
allele num: 66656
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
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: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

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

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.067e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

MQRankSum
type: SiteQuality
SIO_000300: 5.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e0

DP
type: SiteQuality
SIO_000300: 1.532458e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 6614
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.501425270801452e-5
allele num: 66654
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-2

MQ
type: SiteQuality
SIO_000300: 5.961e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.59e-1

FS
type: SiteQuality
SIO_000300: 5.28e-1

DP
type: SiteQuality
SIO_000300: 1.533065e6

MQRankSum
type: SiteQuality
SIO_000300: -3.33e-1

QD
type: SiteQuality
SIO_000300: 1.136e1

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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variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 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: 3.002101471029721e-5
allele num: 66620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.57e-1

QD
type: SiteQuality
SIO_000300: 1.239e1

FS
type: SiteQuality
SIO_000300: 1.241e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.62e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 1.530965e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

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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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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: 4
allele frequency: 3.457216940363008e-4
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 56
allele frequency: 8.408660920748371e-4
allele num: 66598
num of homozygotes: 0

South Asian
type: Population
allele count: 23
allele frequency: 1.394784718010916e-3
allele num: 16490
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MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.383e1

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

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

Latino
type: Population
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10364
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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501817198810561e-5
allele num: 66586
num of homozygotes: 0

East Asian
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FS
type: SiteQuality
SIO_000300: 5.927e0

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

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

East Asian
type: Population
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allele num: 8632
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Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

Other
type: Population
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African
type: Population
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South Asian
type: Population
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allele frequency: 1.215362177929023e-4
allele num: 16456
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502448991856726e-5
allele num: 66558
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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QD
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MQ
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MQRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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FS
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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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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502855425308085e-5
allele num: 66540
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.48e-1

DP
type: SiteQuality
SIO_000300: 1.528324e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.88e-1

QD
type: SiteQuality
SIO_000300: 1.35e1

MQRankSum
type: SiteQuality
SIO_000300: -5.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.3e-2

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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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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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 135
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variant carriers: 0

GenotypeQuality
all individuals: 870
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 6
allele frequency: 5.797101449275362e-4
allele num: 10350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66524
num of homozygotes: 0

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.78e-1

QD
type: SiteQuality
SIO_000300: 1.553e1

InbreedingCoeff
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SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

DP
type: SiteQuality
SIO_000300: 1.527734e6

MQ
type: SiteQuality
SIO_000300: 5.671e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.41e-1

FS
type: SiteQuality
SIO_000300: 6.57e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.535e0

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: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 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: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66426
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.11545988258317e-5
allele num: 16352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.517028e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-1

FS
type: SiteQuality
SIO_000300: 6.201e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.497e0

QD
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SIO_000300: 1.461e1

MQRankSum
type: SiteQuality
SIO_000300: 2.3e0

VQSLOD
type: SiteQuality
SIO_000300: -1.146e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.730702665282105e-4
allele num: 11556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16268
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66324
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.24e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.26e-1

DP
type: SiteQuality
SIO_000300: 1.50306e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.312e0

QD
type: SiteQuality
SIO_000300: 9.93e0

GenotypeQuality
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bin: 9.75e1
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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variant carriers: 0

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: 16250
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508295625942685e-5
allele num: 66300
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.614e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.36e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.500012e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.846e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.34e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 681
bin: 4.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508250128201261e-5
allele num: 66302
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16230
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.04e-1

FS
type: SiteQuality
SIO_000300: 2.322e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.49e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.499305e6

QD
type: SiteQuality
SIO_000300: 1.276e1

VQSLOD
type: SiteQuality
SIO_000300: 8.48e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.0e-2

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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variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66232
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.974e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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QD
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DP
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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ClippingRankSum
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SIO_000300: -1.114e0

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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bin: 7.5e0
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7278
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2612
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.82e-2

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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MQ
type: SiteQuality
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FS
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DP
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
SIO_000300: 8.81e0

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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variant carriers: 6

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2616
num of homozygotes: 0

African
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allele frequency: 3.157894736842105e-2
allele num: 190
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7280
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 92
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.481e1

ReadPosRankSum
type: SiteQuality
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MQRankSum
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BaseQRankSum
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FS
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QD
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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DP
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ClippingRankSum
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SIO_000300: -1.39e-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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bin: 6.25e1
variant carriers: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 8.174386920980927e-4
allele num: 7340
num of homozygotes: 0

African
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allele frequency: 0.0e0
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InbreedingCoeff
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FS
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MQRankSum
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MQ
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BaseQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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ClippingRankSum
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QD
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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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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 5.263157894736842e-3
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2654
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.673e1

ReadPosRankSum
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DP
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InbreedingCoeff
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MQRankSum
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FS
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ClippingRankSum
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QD
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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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Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: NaN
allele num: 0
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 frequency: 0.0e0
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Latino
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South Asian
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InbreedingCoeff
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SIO_000300: -2.38e-2

FS
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MQRankSum
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SIO_000300: -2.929e0

BaseQRankSum
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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QD
type: SiteQuality
SIO_000300: 3.7e-1

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

South Asian
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allele count: 2
allele frequency: 7.462686567164179e-3
allele num: 268
num of homozygotes: 1

Latino
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 2.916666666666667e-1
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.02e-1

QD
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ReadPosRankSum
type: SiteQuality
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FS
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 5.917e-1

MQRankSum
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 4.285714285714286e-2
allele num: 70
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European (Finnish)
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num of homozygotes: 0

African
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East Asian
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allele frequency: 8.333333333333333e-2
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Latino
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allele frequency: NaN
allele num: 0
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Other
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allele frequency: 0.0e0
allele num: 2
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South Asian
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MQRankSum
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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FS
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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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GenotypeQuality
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East Asian
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African
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: NaN
allele num: 0
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European (Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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MQRankSum
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ReadPosRankSum
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DP
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FS
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MQ
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BaseQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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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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East Asian
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European (Finnish)
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allele frequency: NaN
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South Asian
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allele frequency: 1.119402985074627e-2
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African
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Other
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Latino
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European (Non-Finnish)
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ClippingRankSum
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MQRankSum
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FS
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InbreedingCoeff
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DP
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ReadPosRankSum
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BaseQRankSum
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MQ
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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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East Asian
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Other
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European (Finnish)
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South Asian
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allele frequency: 2.238805970149254e-2
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Latino
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African
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European (Non-Finnish)
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InbreedingCoeff
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FS
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DP
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MQ
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VQSLOD
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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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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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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ReadPosRankSum
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MQRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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MQ
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ClippingRankSum
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DP
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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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European (Finnish)
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allele frequency: NaN
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South Asian
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allele num: 7294
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African
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Other
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European (Non-Finnish)
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East Asian
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Latino
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QD
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MQ
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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DP
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FS
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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Other
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African
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European (Finnish)
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South Asian
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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FS
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VQSLOD
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MQRankSum
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ClippingRankSum
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MQ
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DP
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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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East Asian
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Latino
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Other
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European (Finnish)
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African
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European (Non-Finnish)
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South Asian
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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FS
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InbreedingCoeff
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DP
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 7.5e-2
allele num: 40
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Latino
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allele frequency: 4.166666666666666e-2
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European (Non-Finnish)
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Other
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South Asian
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allele frequency: 1.757188498402556e-2
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European (Finnish)
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allele frequency: NaN
allele num: 0
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African
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allele frequency: 0.0e0
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VQSLOD
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InbreedingCoeff
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DP
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ClippingRankSum
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QD
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MQRankSum
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FS
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MQ
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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Latino
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African
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European (Finnish)
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MQRankSum
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VQSLOD
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FS
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DP
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BaseQRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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European (Finnish)
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South Asian
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East Asian
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European (Non-Finnish)
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African
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DP
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FS
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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African
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European (Non-Finnish)
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Other
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European (Finnish)
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InbreedingCoeff
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QD
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MQ
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VQSLOD
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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FS
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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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Latino
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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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Other
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East Asian
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ReadPosRankSum
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BaseQRankSum
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FS
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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MQ
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QD
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DP
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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European (Finnish)
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African
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South Asian
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European (Non-Finnish)
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FS
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MQ
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MQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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QD
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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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bin: 9.75e1
variant carriers: 1

Latino
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allele frequency: 0.0e0
allele num: 9366
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5758
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.719690455717971e-5
allele num: 58150
num of homozygotes: 0

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

FS
type: SiteQuality
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VQSLOD
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

DP
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SIO_000300: 1.0754e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.4e0

MQ
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SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.133e0

MQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9466
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.67689573062347e-5
allele num: 59634
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7494
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5890
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.24e-1

QD
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VQSLOD
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FS
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ReadPosRankSum
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InbreedingCoeff
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DP
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MQ
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MQRankSum
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SIO_000300: -9.5e-1

BaseQRankSum
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SIO_000300: -3.077e0

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

East Asian
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allele frequency: 0.0e0
allele num: 7626
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10064
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60488
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.301236174365647e-4
allele num: 15370
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5960
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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MQ
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SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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DP
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InbreedingCoeff
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 2.537e0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63820
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.00341159943809e-4
allele num: 9966
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6186
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 8.44e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
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MQ
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SIO_000300: 6.0e1

VQSLOD
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FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.355059e6

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

Latino
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allele count: 1
allele frequency: 8.884150675195451e-5
allele num: 11256
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6314
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65392
num of homozygotes: 0

QD
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
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BaseQRankSum
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SIO_000300: -4.34e-1

FS
type: SiteQuality
SIO_000300: 8.273e0

DP
type: SiteQuality
SIO_000300: 1.406405e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-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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South Asian
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allele frequency: 0.0e0
allele num: 16252
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6386
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East Asian
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allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 65790
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Latino
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Other
type: Population
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allele num: 886
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FS
type: SiteQuality
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DP
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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QD
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MQ
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FS
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MQRankSum
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VQSLOD
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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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Other
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InbreedingCoeff
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DP
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QD
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MQ
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ClippingRankSum
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FS
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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Latino
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505162708088744e-5
allele num: 66438
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.81e-1

ClippingRankSum
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SIO_000300: -1.888e0

MQ
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SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.743e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.123e1

MQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

DP
type: SiteQuality
SIO_000300: 1.443134e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 322
bin: 8.75e1
variant carriers: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503714174009804e-5
allele num: 66502
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

QD
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SIO_000300: 9.609999999999999e0

ReadPosRankSum
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SIO_000300: 1.36e0

DP
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SIO_000300: 1.445381e6

VQSLOD
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SIO_000300: 2.64e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.371e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.72e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.973e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e0

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-1

QD
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SIO_000300: 1.191e1

FS
type: SiteQuality
SIO_000300: 3.248e0

InbreedingCoeff
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -3.634e0

DP
type: SiteQuality
SIO_000300: 1.452427e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

GenotypeDepth
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bin: 9.25e1
variant carriers: 0

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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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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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1568
bin: 7.25e1
variant carriers: 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: 6608
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: 8652
num of homozygotes: 0

Latino
type: Population
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: 66700
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.263e1

MQRankSum
type: SiteQuality
SIO_000300: -2.065e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.674e0

DP
type: SiteQuality
SIO_000300: 1.452699e6

MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
SIO_000300: 8.169999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

VQSLOD
type: SiteQuality
SIO_000300: -1.352e0

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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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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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.867e1

QD
type: SiteQuality
SIO_000300: 9.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.26e-1

DP
type: SiteQuality
SIO_000300: 1.452743e6

ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.793e0

GenotypeDepth
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bin: 1.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 10
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

InbreedingCoeff
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MQRankSum
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DP
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VQSLOD
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FS
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MQ
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BaseQRankSum
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ReadPosRankSum
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QD
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ClippingRankSum
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SIO_000300: -2.657e0

GenotypeDepth
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variant carriers: 7

GenotypeDepth
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variant carriers: 8

GenotypeDepth
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variant carriers: 6

GenotypeDepth
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variant carriers: 8

GenotypeDepth
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variant carriers: 22

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

European (Finnish)
type: Population
allele count: 12
allele frequency: 1.815980629539952e-3
allele num: 6608
num of homozygotes: 0

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

South Asian
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allele count: 11
allele frequency: 6.661821705426356e-4
allele num: 16512
num of homozygotes: 0

Other
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allele num: 906
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 65
allele frequency: 9.745127436281859e-4
allele num: 66700
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DP
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BaseQRankSum
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FS
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MQRankSum
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QD
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VQSLOD
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MQ
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

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

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