5-80552686-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80552686
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80552686
    reference: chr 5
allele count: 1
allele frequency: 8.530385232197085e-6
allele num: 117228
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.670-48T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000427635
  ensembl transcript: ENST00000505060
  gene symbol: CKMT2
  hgvsc: ENST00000505060.1:c.448-48T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-9895A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-11458A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.233-48T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-33392A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.670-48T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6078A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.670-48T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-20745A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.635-866T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.480-866T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37075A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-17507A>G
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5446
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1769
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-80552688-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80552688
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80552688
    reference: chr 5
allele count: 1
allele frequency: 8.529221111528095e-6
allele num: 117244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-33394C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-9897C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.670-46G>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-17509C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.670-46G>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.670-46G>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6080C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.233-46G>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37077C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-11460C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000427635
  ensembl transcript: ENST00000505060
  gene symbol: CKMT2
  hgvsc: ENST00000505060.1:c.448-46G>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.635-864G>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-20747C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.480-864G>A
  variant of: http://identifiers.org/hgnc/1996
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5456
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18447
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

5-80552700-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80552700
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80552700
    reference: chr 5
allele count: 1
allele frequency: 8.513246611727849e-6
allele num: 117464
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.670-34C>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.233-34C>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-33406G>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-9909G>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.635-852C>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.480-852C>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.670-34C>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.670-34C>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000427635
  ensembl transcript: ENST00000505060
  gene symbol: CKMT2
  hgvsc: ENST00000505060.1:c.448-34C>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-11472G>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-20759G>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-17521G>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37089G>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6092G>C
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13826
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18916
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

5-80552704-C-CCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80552704
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80552706
    reference: chr 5
allele count: 20
allele frequency: 1.700217627856366e-4
allele num: 117632
alternate allele: CCT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000427635
  ensembl transcript: ENST00000505060
  gene symbol: CKMT2
  hgvsc: ENST00000505060.1:c.448-25_448-24dupCT
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-9915_275-9914dupAG
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.670-25_670-24dupCT
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.670-25_670-24dupCT
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.635-843_635-842dupCT
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.480-843_480-842dupCT
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-11478_270-11477dupAG
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37095_200-37094dupAG
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-33412_212-33411dupAG
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-20765_238-20764dupAG
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.233-25_233-24dupCT
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.670-25_670-24dupCT
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-17527_274-17526dupAG
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6098_259-6097dupAG
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19011
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13828
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7322
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD

5-80552710-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80552710
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80552710
    reference: chr 5
allele count: 1
allele frequency: 8.472135147499873e-6
allele num: 118034
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.480-842T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-20769A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.635-842T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37099A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.670-24T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.233-24T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-33416A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.670-24T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-17531A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.670-24T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-11482A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000427635
  ensembl transcript: ENST00000505060
  gene symbol: CKMT2
  hgvsc: ENST00000505060.1:c.448-24T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6102A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-9919A>G
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

5-80552718-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80552718
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80552718
    reference: chr 5
allele count: 7
allele frequency: 5.905777537796976e-5
allele num: 118528
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.480-834C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6110G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.670-16C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-20777G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000427635
  ensembl transcript: ENST00000505060
  gene symbol: CKMT2
  hgvsc: ENST00000505060.1:c.448-16C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.233-16C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.670-16C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.670-16C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-9927G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-11490G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-17539G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37107G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-33424G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.635-834C>T
  variant of: http://identifiers.org/hgnc/1996
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13855
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8731
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

5-80552724-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80552724
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80552724
    reference: chr 5
allele count: 1
allele frequency: 8.392923087252828e-6
allele num: 119148
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-11496A>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-17545A>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.670-10T>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6116A>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37113A>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-20783A>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.635-828T>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.233-10T>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-9933A>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-33430A>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000427635
  ensembl transcript: ENST00000505060
  gene symbol: CKMT2
  hgvsc: ENST00000505060.1:c.448-10T>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.670-10T>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.670-10T>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.480-828T>A
  variant of: http://identifiers.org/hgnc/1996
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD

5-80552727-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80552727
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80552727
    reference: chr 5
allele count: 2
allele frequency: 1.676164934629567e-5
allele num: 119320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.480-825C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.233-7C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.635-825C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.670-7C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-20786G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37116G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.670-7C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.670-7C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-33433G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000427635
  ensembl transcript: ENST00000505060
  gene symbol: CKMT2
  hgvsc: ENST00000505060.1:c.448-7C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-11499G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-9936G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6119G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-17548G>A
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.670-7C>T
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

5-80552742-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80552742
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80552742
    reference: chr 5
allele count: 3
allele frequency: 2.489791853401056e-5
allele num: 120492
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.678T>G
  hgvsp: ENSP00000404203.2:p.Phe226Leu
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.678T>G
  hgvsp: ENSP00000254035.4:p.Phe226Leu
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-17563A>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-33448A>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-20801A>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37131A>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-11514A>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-9951A>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.241T>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.678T>G
  hgvsp: ENSP00000410289.1:p.Phe226Leu
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.635-810T>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000427635
  ensembl transcript: ENST00000505060
  gene symbol: CKMT2
  hgvsc: ENST00000505060.1:c.456T>G
  hgvsp: ENSP00000427635.1:p.Phe152Leu
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6134A>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.480-810T>G
  variant of: http://identifiers.org/hgnc/1996
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe226Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

5-80552758-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80552758
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80552758
    reference: chr 5
allele count: 1
allele frequency: 8.253276550790664e-6
allele num: 121164
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000427635
  ensembl transcript: ENST00000505060
  gene symbol: CKMT2
  hgvsc: ENST00000505060.1:c.472G>A
  hgvsp: ENST00000505060.1:c.472G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.694G>A
  hgvsp: ENSP00000254035.4:p.Val232Met
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.480-794G>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-9967C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.257G>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37147C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.694G>A
  hgvsp: ENSP00000404203.2:p.Val232Met
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-20817C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-33464C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.694G>A
  hgvsp: ENSP00000410289.1:p.Val232Met
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-11530C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.635-794G>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-17579C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6150C>T
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val232Met
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

5-80552768-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80552768
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80552768
    reference: chr 5
allele count: 1
allele frequency: 8.24905548314718e-6
allele num: 121226
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-9977A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.267T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-33474A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.704T>C
  hgvsp: ENSP00000410289.1:p.Leu235Ser
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.480-784T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-20827A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.704T>C
  hgvsp: ENSP00000254035.4:p.Leu235Ser
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-11540A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-17589A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37157A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.704T>C
  hgvsp: ENSP00000404203.2:p.Leu235Ser
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6160A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.635-784T>C
  variant of: http://identifiers.org/hgnc/1996
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20162
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu235Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-80552771-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80552771
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80552771
    reference: chr 5
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.635-781T>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.270T>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.480-781T>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.707T>A
  hgvsp: ENSP00000404203.2:p.Leu236Ter
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-33477A>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.707T>A
  hgvsp: ENSP00000254035.4:p.Leu236Ter
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.707T>A
  hgvsp: ENSP00000410289.1:p.Leu236Ter
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-20830A>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37160A>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-17592A>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-11543A>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6163A>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-9980A>T
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu236Ter
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

5-80552791-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80552791
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80552791
    reference: chr 5
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6183G>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-33497G>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37180G>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.290C>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.727C>G
  hgvsp: ENSP00000404203.2:p.Arg243Gly
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-20850G>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-11563G>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.727C>G
  hgvsp: ENSP00000410289.1:p.Arg243Gly
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.727C>G
  hgvsp: ENSP00000254035.4:p.Arg243Gly
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10000G>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-17612G>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.635-761C>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.480-761C>G
  variant of: http://identifiers.org/hgnc/1996
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13968
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg243Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-80552791-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80552791
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80552791
    reference: chr 5
allele count: 3
allele frequency: 2.47390035129385e-5
allele num: 121266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-20850G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.635-761C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-17612G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37180G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.290C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.480-761C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-33497G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.727C>T
  hgvsp: ENSP00000404203.2:p.Arg243Cys
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.727C>T
  hgvsp: ENSP00000254035.4:p.Arg243Cys
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-11563G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6183G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10000G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.727C>T
  hgvsp: ENSP00000410289.1:p.Arg243Cys
  variant of: http://identifiers.org/hgnc/1996
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13968
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg243Cys
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

5-80552792-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80552792
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80552792
    reference: chr 5
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.728G>A
  hgvsp: ENSP00000410289.1:p.Arg243His
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-11564C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.728G>A
  hgvsp: ENSP00000254035.4:p.Arg243His
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-17613C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37181C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.480-760G>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-20851C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.291G>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.635-760G>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-33498C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.728G>A
  hgvsp: ENSP00000404203.2:p.Arg243His
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6184C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10001C>T
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg243His
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

5-80552793-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80552793
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80552793
    reference: chr 5
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-20852A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6185A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.729T>C
  hgvsp: ENST00000437669.1:c.729T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-11565A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10002A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-33499A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-17614A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.292T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.729T>C
  hgvsp: ENST00000254035.4:c.729T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.480-759T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.729T>C
  hgvsp: ENST00000424301.2:c.729T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.635-759T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37182A>G
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg243Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

5-80552798-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80552798
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80552798
    reference: chr 5
allele count: 3
allele frequency: 2.474675817467912e-5
allele num: 121228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-20857C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.734G>A
  hgvsp: ENSP00000254035.4:p.Trp245Ter
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10007C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.297G>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.734G>A
  hgvsp: ENSP00000404203.2:p.Trp245Ter
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-17619C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37187C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.635-754G>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.734G>A
  hgvsp: ENSP00000410289.1:p.Trp245Ter
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-11570C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6190C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.480-754G>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-33504C>T
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13974
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp245Ter
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ

5-80552814-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80552814
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80552814
    reference: chr 5
allele count: 1
allele frequency: 8.263370132874991e-6
allele num: 121016
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.313A>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10023T>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.750A>T
  hgvsp: ENST00000437669.1:c.750A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.750A>T
  hgvsp: ENST00000254035.4:c.750A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.480-738A>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-20873T>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-11586T>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.635-738A>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.750A>T
  hgvsp: ENST00000424301.2:c.750A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37203T>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-17635T>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-33520T>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6206T>A
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly250Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

5-80552840-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80552840
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80552840
    reference: chr 5
allele count: 1
allele frequency: 8.333333333333334e-6
allele num: 120000
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.755+21C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.635-712C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-11612G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.755+21C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.755+21C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37229G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.318+21C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6232G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-33546G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-20899G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10049G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.480-712C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-17661G>A
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2660
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7484
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/5-80552847-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80552847
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80552847
    reference: chr 5
allele count: 37
allele frequency: 3.089615551621631e-4
allele num: 119756
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.318+28A>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-33553T>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.755+28A>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-11619T>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.755+28A>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.480-705A>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.635-705A>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37236T>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-17668T>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-20906T>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6239T>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10056T>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.755+28A>C
  variant of: http://identifiers.org/hgnc/1996
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6309
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13540
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18598
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

5-80552856-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80552856
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80552856
    reference: chr 5
allele count: 2
allele frequency: 1.67619303038938e-5
allele num: 119318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.480-696A>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-20915T>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.755+37A>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.318+37A>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.635-696A>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37245T>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10065T>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.755+37A>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-17677T>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.755+37A>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-33562T>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-11628T>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6248T>C
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5210
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2626
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12256
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

5-80552869-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80552869
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80552869
    reference: chr 5
allele count: 1
allele frequency: 8.483059330516958e-6
allele num: 117882
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-33575C>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.755+50G>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.480-683G>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.318+50G>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.755+50G>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-11641C>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.635-683G>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37258C>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6261C>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.755+50G>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-17690C>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-20928C>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10078C>A
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3906
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12311
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7633
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

5-80552871-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80552871
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80552871
    reference: chr 5
allele count: 22240
allele frequency: 1.896834061135371e-1
allele num: 117248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-20930C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.755+52G>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.318+52G>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-33577C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10080C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.480-681G>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6263C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-11643C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.755+52G>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37260C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.635-681G>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.755+52G>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-17692C>T
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 1.25e1
  variant carriers: 1311
genotype depth: GenotypeDepth
  all individuals: 12169
  bin: 2.75e1
  variant carriers: 4178
genotype depth: GenotypeDepth
  all individuals: 8454
  bin: 3.25e1
  variant carriers: 2871
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 5.25e1
  variant carriers: 364
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 4.25e1
  variant carriers: 813
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 6.25e1
  variant carriers: 201
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 4724
  bin: 3.75e1
  variant carriers: 1525
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 8.25e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 4.75e1
  variant carriers: 489
genotype depth: GenotypeDepth
  all individuals: 11750
  bin: 2.25e1
  variant carriers: 4197
genotype depth: GenotypeDepth
  all individuals: 7902
  bin: 1.75e1
  variant carriers: 2794
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.75e1
  variant carriers: 246
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 6.75e1
  variant carriers: 172
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 7.5e0
  variant carriers: 336
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 8.75e1
  variant carriers: 92
genotype quality: GenotypeQuality
num of homozygotes: 2393
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-80553513-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553513
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553513
    reference: chr 5
allele count: 1
allele frequency: 8.561350638676758e-6
allele num: 116804
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.756-39T>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.635-39T>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.756-39T>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6905A>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37902A>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.319-39T>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.480-39T>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34219A>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12285A>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21572A>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.756-39T>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10722A>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18334A>T
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21048
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

5-80553517-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553517
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553517
    reference: chr 5
allele count: 2
allele frequency: 1.711508181009105e-5
allele num: 116856
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.756-35A>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6909T>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.319-35A>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.756-35A>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18338T>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12289T>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.635-35A>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37906T>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.480-35A>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21576T>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34223T>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.756-35A>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10726T>C
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7555
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13294
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/5-80553520-AAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553520
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553518
    reference: chr 5
allele count: 1
allele frequency: 8.544233496813002e-6
allele num: 117038
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12294_270-12293delGT
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.319-29_319-28delAC
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.756-29_756-28delAC
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37911_200-37910delGT
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18343_274-18342delGT
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.756-29_756-28delAC
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34228_212-34227delGT
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.480-29_480-28delAC
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21581_238-21580delGT
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.756-29_756-28delAC
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6914_259-6913delGT
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.635-29_635-28delAC
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10731_275-10730delGT
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7013
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: AAC
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

5-80553523-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553523
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553523
    reference: chr 5
allele count: 1
allele frequency: 8.53344256139812e-6
allele num: 117186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34229T>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21582T>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.319-29A>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.480-29A>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6915T>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.756-29A>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.756-29A>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12295T>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.756-29A>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18344T>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37912T>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.635-29A>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10732T>A
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

5-80553524-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553524
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553524
    reference: chr 5
allele count: 1
allele frequency: 8.536356341659126e-6
allele num: 117146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.319-28C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12296G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6916G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10733G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21583G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.756-28C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.756-28C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.480-28C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18345G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34230G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.756-28C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37913G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.635-28C>T
  variant of: http://identifiers.org/hgnc/1996
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4555
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6016
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

5-80553526-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553526
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553526
    reference: chr 5
allele count: 25
allele frequency: 2.133033002286611e-4
allele num: 117204
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.756-26C>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.635-26C>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6918G>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10735G>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.756-26C>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.319-26C>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.756-26C>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12298G>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21585G>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34232G>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.480-26C>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37915G>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18347G>C
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26535
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

5-80553528-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553528
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553528
    reference: chr 5
allele count: 1
allele frequency: 8.514406375587495e-6
allele num: 117448
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.635-24G>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10737C>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34234C>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6920C>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12300C>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37917C>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.319-24G>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21587C>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.480-24G>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.756-24G>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.756-24G>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.756-24G>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18349C>G
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5087
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27111
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

5-80553534-T-TATTTCTCTCTTCATTAGGCATAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553534
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553557
    reference: chr 5
allele count: 7
allele frequency: 5.93582524930466e-5
allele num: 117928
alternate allele: TATTTCTCTCTTCATTAGGCATAA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsp: ENSP00000254035.4:p.Asn254LysfsTer18
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsp: ENSP00000404203.2:p.Asn254LysfsTer18
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsp: ENSP00000410289.1:p.Asn254LysfsTer18
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  variant of: http://identifiers.org/hgnc/1996
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 4764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28544
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15343
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asn254LysfsTer18
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

5-80553534-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553534
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553534
    reference: chr 5
allele count: 1
allele frequency: 8.479750356149515e-6
allele num: 117928
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.756-18T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34240A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.319-18T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37923A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6926A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.756-18T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.635-18T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.480-18T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21593A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.756-18T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12306A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10743A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18355A>G
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28544
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD

5-80553536-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553536
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553536
    reference: chr 5
allele count: 2
allele frequency: 1.693881699302121e-5
allele num: 118072
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12308A>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.319-16T>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.756-16T>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.756-16T>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.635-16T>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6928A>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.756-16T>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21595A>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10745A>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18357A>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.480-16T>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37925A>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34242A>C
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15472
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4787
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

5-80553541-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553541
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553541
    reference: chr 5
allele count: 2
allele frequency: 1.689874273354063e-5
allele num: 118352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.756-11C>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.756-11C>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12313G>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.480-11C>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6933G>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37930G>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34247G>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10750G>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21600G>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.756-11C>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.635-11C>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.319-11C>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18362G>C
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15929
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29514
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

5-80553541-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553541
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553541
    reference: chr 5
allele count: 1
allele frequency: 8.449371366770313e-6
allele num: 118352
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.756-11C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37930G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34247G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.480-11C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.319-11C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.756-11C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12313G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.756-11C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18362G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6933G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21600G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.635-11C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10750G>A
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

5-80553548-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553548
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553548
    reference: chr 5
allele count: 2
allele frequency: 1.682114080976972e-5
allele num: 118898
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6940A>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.480-4T>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10757A>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.319-4T>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.635-4T>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34254A>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.756-4T>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21607A>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12320A>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.756-4T>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.756-4T>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18369A>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37937A>T
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16716
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4988
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.756-4T>A
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

5-80553549-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553549
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553549
    reference: chr 5
allele count: 1
allele frequency: 8.404208827780952e-6
allele num: 118988
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6941A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.635-3T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34255A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.756-3T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.756-3T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.756-3T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18370A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37938A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12321A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.480-3T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10758A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21608A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.319-3T>C
  variant of: http://identifiers.org/hgnc/1996
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16764
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.756-3T>C
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

5-80553562-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553562
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553562
    reference: chr 5
allele count: 1
allele frequency: 8.346966712296751e-6
allele num: 119804
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12334C>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.766G>T
  hgvsp: ENSP00000404203.2:p.Asp256Tyr
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.766G>T
  hgvsp: ENSP00000254035.4:p.Asp256Tyr
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.490G>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.645G>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.766G>T
  hgvsp: ENSP00000410289.1:p.Asp256Tyr
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.329G>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37951C>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6954C>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18383C>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34268C>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21621C>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10771C>A
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 17534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30603
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp256Tyr
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/5-80553566-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553566
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553566
    reference: chr 5
allele count: 1
allele frequency: 8.334027835652971e-6
allele num: 119990
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6958T>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18387T>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.494A>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.770A>C
  hgvsp: ENSP00000404203.2:p.Lys257Thr
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34272T>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.770A>C
  hgvsp: ENSP00000410289.1:p.Lys257Thr
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37955T>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.333A>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.649A>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10775T>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.770A>C
  hgvsp: ENSP00000254035.4:p.Lys257Thr
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12338T>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21625T>G
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys257Thr
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

5-80553570-A-ATTTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553570
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553574
    reference: chr 5
allele count: 1
allele frequency: 8.320990530712775e-6
allele num: 120178
alternate allele: ATTTC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.339_342dupTTCT
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18395_274-18392dupGAAA
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.655_658dupTTCT
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21633_238-21630dupGAAA
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10783_275-10780dupGAAA
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.500_503dupTTCT
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.776_779dupTTCT
  hgvsp: ENSP00000410289.1:p.Ile261SerfsTer6
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6966_259-6963dupGAAA
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34280_212-34277dupGAAA
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.776_779dupTTCT
  hgvsp: ENSP00000404203.2:p.Ile261SerfsTer6
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.776_779dupTTCT
  hgvsp: ENSP00000254035.4:p.Ile261SerfsTer6
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12346_270-12343dupGAAA
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37963_200-37960dupGAAA
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17815
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile261SerfsTer6
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ

5-80553570-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553570
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553570
    reference: chr 5
allele count: 1
allele frequency: 8.320990530712775e-6
allele num: 120178
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.774A>G
  hgvsp: ENST00000424301.2:c.774A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.653A>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.774A>G
  hgvsp: ENST00000437669.1:c.774A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18391T>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34276T>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.498A>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.337A>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21629T>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.774A>G
  hgvsp: ENST00000254035.4:c.774A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6962T>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12342T>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10779T>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37959T>C
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr258Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

5-80553581-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553581
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553581
    reference: chr 5
allele count: 3
allele frequency: 2.489750526997195e-5
allele num: 120494
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.785G>A
  hgvsp: ENSP00000404203.2:p.Trp262Ter
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.785G>A
  hgvsp: ENSP00000254035.4:p.Trp262Ter
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.664G>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12353C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.509G>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18402C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37970C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34287C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.785G>A
  hgvsp: ENSP00000410289.1:p.Trp262Ter
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6973C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.348G>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10790C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21640C>T
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18149
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp262Ter
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

5-80553588-TGAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553588
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553585
    reference: chr 5
allele count: 2
allele frequency: 1.658044833532299e-5
allele num: 120624
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34297_212-34295delCTC
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6983_259-6981delCTC
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.798_800delGGA
  hgvsp: ENSP00000404203.2:p.Glu266del
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.798_800delGGA
  hgvsp: ENSP00000410289.1:p.Glu266del
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.677_679delGGA
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21650_238-21648delCTC
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18412_274-18410delCTC
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10800_275-10798delCTC
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.798_800delGGA
  hgvsp: ENSP00000254035.4:p.Glu266del
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12363_270-12361delCTC
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.522_524delGGA
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.361_363delGGA
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37980_200-37978delCTC
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31386
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18292
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5193
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu266del
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: TGAG
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff

5-80553597-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553597
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553597
    reference: chr 5
allele count: 1
allele frequency: 8.282808203293245e-6
allele num: 120732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37986A>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.801T>A
  hgvsp: ENSP00000254035.4:p.Asp267Glu
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12369A>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10806A>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.801T>A
  hgvsp: ENSP00000404203.2:p.Asp267Glu
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.525T>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.680T>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6989A>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.364T>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34303A>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21656A>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18418A>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.801T>A
  hgvsp: ENSP00000410289.1:p.Asp267Glu
  variant of: http://identifiers.org/hgnc/1996
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5218
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp267Glu
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

5-80553603-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553603
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553603
    reference: chr 5
allele count: 2
allele frequency: 1.656095258599275e-5
allele num: 120766
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.807C>T
  hgvsp: ENST00000254035.4:c.807C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.807C>T
  hgvsp: ENST00000437669.1:c.807C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34309G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.531C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37992G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12375G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.807C>T
  hgvsp: ENST00000424301.2:c.807C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.686C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21662G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.370C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6995G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10812G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18424G>A
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr269Thr
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

5-80553605-G-GGGTAATCTCAATGGAAAAAGGAGGCAATATGAAACGAGTATTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553605
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553648
    reference: chr 5
allele count: 1
allele frequency: 8.279379377721846e-6
allele num: 120782
alternate allele: GGGTAATCTCAATGGAAAAAGGAGGCAATATGAAACGAGTATTT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsp: ENSP00000410289.1:p.Glu285GlyfsTer15
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsp: ENSP00000404203.2:p.Glu285GlyfsTer15
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsp: ENSP00000254035.4:p.Glu285GlyfsTer15
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18530
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31335
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu285GlyfsTer15
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

5-80553606-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553606
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553606
    reference: chr 5
allele count: 7
allele frequency: 5.79614142585079e-5
allele num: 120770
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21665C>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34312C>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.810G>C
  hgvsp: ENSP00000410289.1:p.Arg270Ser
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.810G>C
  hgvsp: ENSP00000404203.2:p.Arg270Ser
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-6998C>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.810G>C
  hgvsp: ENSP00000254035.4:p.Arg270Ser
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10815C>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-37995C>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.373G>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.534G>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.689G>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12378C>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18427C>G
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg270Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

5-80553623-AAGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553623
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553620
    reference: chr 5
allele count: 1
allele frequency: 8.277597510098669e-6
allele num: 120808
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10835_275-10833delCCT
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.831_833delAGG
  hgvsp: ENSP00000254035.4:p.Gly278del
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-38015_200-38013delCCT
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.831_833delAGG
  hgvsp: ENSP00000410289.1:p.Gly278del
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18447_274-18445delCCT
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.394_396delAGG
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.831_833delAGG
  hgvsp: ENSP00000404203.2:p.Gly278del
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.710_712delAGG
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.555_557delAGG
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21685_238-21683delCCT
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34332_212-34330delCCT
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-7018_259-7016delCCT
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12398_270-12396delCCT
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18694
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly278del
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: AAGG
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

5-80553628-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553628
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553628
    reference: chr 5
allele count: 3
allele frequency: 2.483690432824453e-5
allele num: 120788
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.832G>A
  hgvsp: ENSP00000254035.4:p.Gly278Ser
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21687C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.832G>A
  hgvsp: ENSP00000404203.2:p.Gly278Ser
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-38017C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10837C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.832G>A
  hgvsp: ENSP00000410289.1:p.Gly278Ser
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.556G>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12400C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18449C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.711G>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.395G>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34334C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-7020C>T
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly278Ser
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

5-80553640-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553640
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553640
    reference: chr 5
allele count: 3
allele frequency: 2.487809732311673e-5
allele num: 120588
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.844C>T
  hgvsp: ENSP00000410289.1:p.Arg282Ter
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.568C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.844C>T
  hgvsp: ENSP00000254035.4:p.Arg282Ter
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.723C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21699G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.407C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.844C>T
  hgvsp: ENSP00000404203.2:p.Arg282Ter
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-38029G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12412G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-7032G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34346G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10849G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18461G>A
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg282Ter
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

5-80553641-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553641
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553641
    reference: chr 5
allele count: 1
allele frequency: 8.298892927683448e-6
allele num: 120498
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.845G>A
  hgvsp: ENSP00000404203.2:p.Arg282Gln
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-38030C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.408G>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.724G>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.845G>A
  hgvsp: ENSP00000254035.4:p.Arg282Gln
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.845G>A
  hgvsp: ENSP00000410289.1:p.Arg282Gln
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18462C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.569G>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34347C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12413C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21700C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10850C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-7033C>T
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5277
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg282Gln
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ

5-80553641-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553641
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553641
    reference: chr 5
allele count: 1
allele frequency: 8.298892927683448e-6
allele num: 120498
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-7033C>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10850C>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.845G>T
  hgvsp: ENSP00000410289.1:p.Arg282Leu
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.845G>T
  hgvsp: ENSP00000254035.4:p.Arg282Leu
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.845G>T
  hgvsp: ENSP00000404203.2:p.Arg282Leu
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34347C>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.724G>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12413C>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.408G>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-38030C>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21700C>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.569G>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18462C>A
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30938
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg282Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD

5-80553642-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553642
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553642
    reference: chr 5
allele count: 7
allele frequency: 5.808839393889101e-5
allele num: 120506
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.846A>G
  hgvsp: ENST00000424301.2:c.846A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21701T>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.409A>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-38031T>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.725A>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.846A>G
  hgvsp: ENST00000254035.4:c.846A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.570A>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-7034T>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.846A>G
  hgvsp: ENST00000437669.1:c.846A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10851T>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12414T>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34348T>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18463T>C
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg282Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

5-80553645-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553645
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553645
    reference: chr 5
allele count: 2
allele frequency: 1.662234042553192e-5
allele num: 120320
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21704T>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10854T>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-38034T>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12417T>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.849A>G
  hgvsp: ENST00000437669.1:c.849A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.728A>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-7037T>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.849A>G
  hgvsp: ENST00000254035.4:c.849A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.573A>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.849A>G
  hgvsp: ENST00000424301.2:c.849A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18466T>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.412A>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34351T>C
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18659
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val283Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

5-80553652-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553652
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553652
    reference: chr 5
allele count: 1
allele frequency: 8.333194446759221e-6
allele num: 120002
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.856C>T
  hgvsp: ENSP00000254035.4:p.Arg286Ter
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.580C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.419C>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21711G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.856C>T
  hgvsp: ENSP00000410289.1:p.Arg286Ter
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34358G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.856C>T
  hgvsp: ENSP00000404203.2:p.Arg286Ter
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12424G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10861G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18473G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-38041G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-7044G>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.735C>T
  variant of: http://identifiers.org/hgnc/1996
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30316
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg286Ter
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: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

5-80553653-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553653
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553653
    reference: chr 5
allele count: 1
allele frequency: 8.334027835652971e-6
allele num: 119990
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-38042C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.857G>A
  hgvsp: ENSP00000410289.1:p.Arg286Gln
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.857G>A
  hgvsp: ENSP00000254035.4:p.Arg286Gln
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10862C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34359C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.736G>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.420G>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.581G>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.857G>A
  hgvsp: ENSP00000404203.2:p.Arg286Gln
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18474C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-7045C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21712C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12425C>T
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg286Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

5-80553660-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553660
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553660
    reference: chr 5
allele count: 1
allele frequency: 8.367080558251614e-6
allele num: 119516
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10869A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34366A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.864T>C
  hgvsp: ENST00000437669.1:c.864T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12432A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-7052A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18481A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-38049A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.588T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.864T>C
  hgvsp: ENST00000254035.4:c.864T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21719A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.864T>C
  hgvsp: ENST00000424301.2:c.864T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.427T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.743T>C
  variant of: http://identifiers.org/hgnc/1996
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18465
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29745
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys288Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

5-80553662-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553662
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553662
    reference: chr 5
allele count: 33
allele frequency: 2.765347679621901e-4
allele num: 119334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.866G>A
  hgvsp: ENSP00000410289.1:p.Arg289His
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21721C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-38051C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18483C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.429G>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.866G>A
  hgvsp: ENSP00000404203.2:p.Arg289His
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.866G>A
  hgvsp: ENSP00000254035.4:p.Arg289His
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.745G>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.590G>A
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34368C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10871C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-7054C>T
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12434C>T
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5180
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg289His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum

5-80553663-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553663
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553663
    reference: chr 5
allele count: 3
allele frequency: 2.515259239385606e-5
allele num: 119272
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-7055A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.867T>C
  hgvsp: ENST00000437669.1:c.867T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18484A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21722A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.746T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.591T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10872A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12435A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.867T>C
  hgvsp: ENST00000424301.2:c.867T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.867T>C
  hgvsp: ENST00000254035.4:c.867T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34369A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.430T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-38052A>G
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg289Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS

5-80553669-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553669
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553670
    reference: chr 5
allele count: 5
allele frequency: 4.221546774738264e-5
allele num: 118440
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18491_274-18490insA
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10879_275-10878insA
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.752_753insT
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.873_874insT
  hgvsp: ENSP00000410289.1:p.Lys292Ter
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-7062_259-7061insA
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.873_874insT
  hgvsp: ENSP00000254035.4:p.Lys292Ter
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12442_270-12441insA
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.873_874insT
  hgvsp: ENSP00000404203.2:p.Lys292Ter
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21729_238-21728insA
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34376_212-34375insA
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.597_598insT
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.436_437insT
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-38059_200-38058insA
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28366
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5129
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys292Ter
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

5-80553670-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553670
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553670
    reference: chr 5
allele count: 5
allele frequency: 4.22204583452958e-5
allele num: 118426
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.874A>T
  hgvsp: ENSP00000254035.4:p.Lys292Ter
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.437A>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12442T>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10879T>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.874A>T
  hgvsp: ENSP00000404203.2:p.Lys292Ter
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.753A>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.874A>T
  hgvsp: ENSP00000410289.1:p.Lys292Ter
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.598A>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34376T>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18491T>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21729T>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-7062T>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-38059T>A
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys292Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

5-80553674-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553674
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553674
    reference: chr 5
allele count: 1
allele frequency: 8.487811502682149e-6
allele num: 117816
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.878A>T
  hgvsp: ENSP00000410289.1:p.Glu293Val
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.441A>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18495T>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-38063T>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.878A>T
  hgvsp: ENSP00000404203.2:p.Glu293Val
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10883T>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.602A>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21733T>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.757A>T
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.878A>T
  hgvsp: ENSP00000254035.4:p.Glu293Val
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-7066T>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12446T>A
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34380T>A
  variant of: http://identifiers.org/hgnc/48997
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu293Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ

5-80553684-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553684
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553684
    reference: chr 5
allele count: 2
allele frequency: 1.74176580217024e-5
allele num: 114826
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.612T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.879+9T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.879+9T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.758+9T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-7076A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12456A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18505A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34390A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10893A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.879+9T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.442+9T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21743A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-38073A>G
  variant of: http://identifiers.org/hgnc/48997
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16856
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3031
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP

5-80553692-G-GATTTCTGGATATTTATTAAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553692
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553712
    reference: chr 5
allele count: 1
allele frequency: 8.917901796065422e-6
allele num: 112134
alternate allele: GATTTCTGGATATTTATTAAA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  variant of: http://identifiers.org/hgnc/1996
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15276
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4001
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19577
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9794
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

5-80553706-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553706
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553706
    reference: chr 5
allele count: 1
allele frequency: 9.410878976096367e-6
allele num: 106260
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.879+31T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-38095A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.879+31T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.758+31T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.442+31T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12478A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.634T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-7098A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.879+31T>C
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18527A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34412A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21765A>G
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10915A>G
  variant of: http://identifiers.org/hgnc/48997
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6216
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

5-80553712-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 80553712
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 80553712
    reference: chr 5
allele count: 1
allele frequency: 9.693491789612455e-6
allele num: 103162
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000254035
  ensembl transcript: ENST00000254035
  gene symbol: CKMT2
  hgvsc: ENST00000254035.4:c.879+37A>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000512287
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000512287.1:n.238-21771T>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505135
  gene symbol: CKMT2
  hgvsc: ENST00000505135.1:n.640A>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000514086
  gene symbol: CKMT2
  hgvsc: ENST00000514086.1:n.758+37A>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000503483
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000503483.2:n.200-38101T>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000501927
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000501927.2:n.270-12484T>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl transcript: ENST00000505850
  gene symbol: CKMT2
  hgvsc: ENST00000505850.1:n.442+37A>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000500148
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000500148.2:n.259-7104T>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000511495
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000511495.1:n.212-34418T>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000410289
  ensembl transcript: ENST00000437669
  gene symbol: CKMT2
  hgvsc: ENST00000437669.1:c.879+37A>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000502041
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000502041.2:n.274-18533T>C
  variant of: http://identifiers.org/hgnc/48997
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131730
  ensembl protein: ENSP00000404203
  ensembl transcript: ENST00000424301
  gene symbol: CKMT2
  hgvsc: ENST00000424301.2:c.879+37A>G
  variant of: http://identifiers.org/hgnc/1996
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000247572
  ensembl transcript: ENST00000505295
  gene symbol: CKMT2-AS1
  hgvsc: ENST00000505295.1:n.275-10921T>C
  variant of: http://identifiers.org/hgnc/48997
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17929
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7791
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
reference allele: A

GenotypeDepth
all individuals: 362
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 318
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 296
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 889
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 714
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3911
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2924
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1073
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 775
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2696
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9018
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1108
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1617
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 946
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23669
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8324
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1663
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524994662518681e-5
allele num: 65574
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13678
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.022e0

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.64e0

QD
type: SiteQuality
SIO_000300: 1.39e1

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.93e-1

DP
type: SiteQuality
SIO_000300: 2.003332e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.9e-2

GenotypeDepth
all individuals: 551
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 432
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1656
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 889
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1121
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1118
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9008
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1634
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1649
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2650
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 764
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2879
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8299
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1068
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3856
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 931
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24067
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.30246823426318e-5
allele num: 13694
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65580
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.333e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.74e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.071e0

DP
type: SiteQuality
SIO_000300: 2.005216e6

MQ
type: SiteQuality
SIO_000300: 5.844e1

MQRankSum
type: SiteQuality
SIO_000300: -1.538e0

QD
type: SiteQuality
SIO_000300: 1.244e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e-1

GenotypeDepth
all individuals: 1731
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 296
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 362
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 888
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1120
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3759
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9000
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1057
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2607
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1820
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2851
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26095
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 986
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1645
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8338
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 703
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65630
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13834
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.82e1

QD
type: SiteQuality
SIO_000300: 1.657e1

DP
type: SiteQuality
SIO_000300: 2.017073e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.695e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.39e-1

GenotypeDepth
all individuals: 553
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1120
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 228
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1659
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 318
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2599
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9016
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 3755
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2853
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26546
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 919
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1839
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8347
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1644
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1057
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.25e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65662
num of homozygotes: 0

South Asian
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allele count: 20
allele frequency: 1.433075379764976e-3
allele num: 13956
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.8e-1

MQ
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SIO_000300: 6.063e1

InbreedingCoeff
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SIO_000300: -4.0e-4

BaseQRankSum
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VQSLOD
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MQRankSum
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SIO_000300: 1.73e-1

ClippingRankSum
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SIO_000300: -8.110000000000001e-1

FS
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SIO_000300: 7.89e-1

DP
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SIO_000300: 2.021395e6

QD
type: SiteQuality
SIO_000300: 1.56e1

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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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.520496289989052e-5
allele num: 65768
num of homozygotes: 0

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

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

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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DP
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SIO_000300: 2.027404e6

FS
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.855e1

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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variant carriers: 0

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

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

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

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

Latino
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allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

Other
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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: 6
allele frequency: 9.1000091000091e-5
allele num: 65934
num of homozygotes: 0

FS
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SIO_000300: 0.0e0

InbreedingCoeff
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BaseQRankSum
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DP
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SIO_000300: 2.0396e6

ReadPosRankSum
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SIO_000300: 3.55e-1

VQSLOD
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ClippingRankSum
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SIO_000300: -4.47e-1

MQRankSum
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SIO_000300: 7.099999999999999e-2

MQ
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SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 2.643e1

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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)
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allele count: 1
allele frequency: 1.513134003147319e-5
allele num: 66088
num of homozygotes: 0

Latino
type: Population
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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MQRankSum
type: SiteQuality
SIO_000300: -7.7e-2

MQ
type: SiteQuality
SIO_000300: 5.897e1

DP
type: SiteQuality
SIO_000300: 2.048094e6

InbreedingCoeff
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SIO_000300: 7.0e-4

ClippingRankSum
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SIO_000300: -2.307e0

BaseQRankSum
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SIO_000300: -4.159e0

VQSLOD
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SIO_000300: -1.975e0

ReadPosRankSum
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SIO_000300: 1.59e0

FS
type: SiteQuality
SIO_000300: 1.1342e1

QD
type: SiteQuality
SIO_000300: 9.289999999999999e0

GenotypeDepth
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variant carriers: 0

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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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.024528929619212e-5
allele num: 66126
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MQRankSum
type: SiteQuality
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ClippingRankSum
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MQ
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FS
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BaseQRankSum
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DP
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VQSLOD
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InbreedingCoeff
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QD
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 1

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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South Asian
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num of homozygotes: 0

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

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

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: 1

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500600240096038e-5
allele num: 66640
num of homozygotes: 0

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

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

South Asian
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allele frequency: 0.0e0
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BaseQRankSum
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MQ
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FS
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InbreedingCoeff
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DP
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VQSLOD
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QD
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MQRankSum
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

South Asian
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num of homozygotes: 0

Other
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num of homozygotes: 0

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

BaseQRankSum
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SIO_000300: 9.48e-1

FS
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SIO_000300: 1.174e0

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

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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bin: 8.25e1
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

VQSLOD
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FS
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SIO_000300: 1.2653e1

MQRankSum
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SIO_000300: 2.24e-1

MQ
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SIO_000300: 5.878e1

BaseQRankSum
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QD
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SIO_000300: 1.179e1

InbreedingCoeff
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DP
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ClippingRankSum
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SIO_000300: 1.63e-1

ReadPosRankSum
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SIO_000300: 2.74e-1

GenotypeDepth
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variant carriers: 0

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

Latino
type: Population
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num of homozygotes: 0

Other
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South Asian
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allele frequency: 1.215066828675577e-4
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European (Non-Finnish)
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allele num: 66654
num of homozygotes: 0

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

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

InbreedingCoeff
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BaseQRankSum
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FS
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QD
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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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MQ
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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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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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Other
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South Asian
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European (Non-Finnish)
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allele num: 66656
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East Asian
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European (Finnish)
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num of homozygotes: 0

FS
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MQ
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

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

Latino
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African
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South Asian
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East Asian
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European (Non-Finnish)
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Other
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: -1.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.74e-1

FS
type: SiteQuality
SIO_000300: 4.597e0

DP
type: SiteQuality
SIO_000300: 2.077408e6

QD
type: SiteQuality
SIO_000300: 1.285e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.333e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeDepth
all individuals: 319
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variant carriers: 0

GenotypeDepth
all individuals: 1118
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variant carriers: 0

GenotypeDepth
all individuals: 432
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 8989
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
all individuals: 1055
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2592
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3765
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 369
bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16276
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

VQSLOD
type: SiteQuality
SIO_000300: 8.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.05e-1

FS
type: SiteQuality
SIO_000300: 9.19e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 2.074184e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.582e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

QD
type: SiteQuality
SIO_000300: 1.161e1

GenotypeDepth
all individuals: 362
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variant carriers: 0

GenotypeDepth
all individuals: 887
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 49
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GenotypeQuality
all individuals: 103
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27264
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8985
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66314
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.782e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.667e0

QD
type: SiteQuality
SIO_000300: 1.399e1

MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
SIO_000300: 7.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 2.036814e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

GenotypeDepth
all individuals: 2649
bin: 4.25e1
variant carriers: 3

GenotypeDepth
all individuals: 5387
bin: 3.75e1
variant carriers: 3

GenotypeDepth
all individuals: 320
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variant carriers: 1

GenotypeQuality
all individuals: 1043
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variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 5.25e1
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GenotypeQuality
all individuals: 287
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GenotypeQuality
all individuals: 2604
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 24998
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 955
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8997
bin: 9.75e1
variant carriers: 37

GenotypeQuality
all individuals: 3684
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variant carriers: 0

GenotypeQuality
all individuals: 982
bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66252
num of homozygotes: 0

African
type: Population
allele count: 37
allele frequency: 3.567296567682221e-3
allele num: 10372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15448
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
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: 8642
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.014e0

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

QD
type: SiteQuality
SIO_000300: 1.643e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.8e-2

DP
type: SiteQuality
SIO_000300: 2.009764e6

GenotypeDepth
all individuals: 549
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1109
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variant carriers: 0

GenotypeDepth
all individuals: 227
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variant carriers: 0

GenotypeQuality
all individuals: 2688
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variant carriers: 0

GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 263
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GenotypeQuality
all individuals: 7278
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variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 7.5e0
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GenotypeQuality
all individuals: 466
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variant carriers: 0

GenotypeQuality
all individuals: 2195
bin: 3.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 21140
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2910
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2472
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 854
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 934
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variant carriers: 0

GenotypeQuality
all individuals: 1625
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8971
bin: 9.75e1
variant carriers: 2

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.02416306287235e-5
allele num: 66134
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15152
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

VQSLOD
type: SiteQuality
SIO_000300: 3.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

MQRankSum
type: SiteQuality
SIO_000300: 6.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 1.959455e6

QD
type: SiteQuality
SIO_000300: 1.774e1

GenotypeDepth
all individuals: 885
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 363
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variant carriers: 0

GenotypeDepth
all individuals: 4803
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variant carriers: 0

GenotypeQuality
all individuals: 3418
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5178
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variant carriers: 0

GenotypeQuality
all individuals: 2484
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variant carriers: 0

GenotypeQuality
all individuals: 1024
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GenotypeQuality
all individuals: 5216
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1617
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GenotypeQuality
all individuals: 61
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variant carriers: 0

GenotypeQuality
all individuals: 211
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GenotypeQuality
all individuals: 689
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
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variant carriers: 0

GenotypeQuality
all individuals: 3236
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variant carriers: 0

GenotypeQuality
all individuals: 2607
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variant carriers: 0

GenotypeQuality
all individuals: 8959
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variant carriers: 1

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

GenotypeQuality
all individuals: 2390
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GenotypeQuality
all individuals: 1639
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variant carriers: 0

GenotypeQuality
all individuals: 4186
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GenotypeQuality
all individuals: 1887
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65602
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16333178222429e-4
allele num: 8596
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14456
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.79e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.255e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.878981e6

BaseQRankSum
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SIO_000300: -1.159e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.77e-1

GenotypeDepth
all individuals: 1082
bin: 9.75e1
variant carriers: 323

GenotypeDepth
all individuals: 417
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variant carriers: 126

GenotypeDepth
all individuals: 225
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variant carriers: 51

GenotypeQuality
all individuals: 1651
bin: 7.25e1
variant carriers: 141

GenotypeQuality
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variant carriers: 73

GenotypeQuality
all individuals: 5006
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variant carriers: 194

GenotypeQuality
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bin: 7.75e1
variant carriers: 240

GenotypeQuality
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bin: 5.75e1
variant carriers: 130

GenotypeQuality
all individuals: 1286
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variant carriers: 175

GenotypeQuality
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variant carriers: 219

GenotypeQuality
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bin: 3.75e1
variant carriers: 114

GenotypeQuality
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bin: 2.5e0
variant carriers: 22

GenotypeQuality
all individuals: 1210
bin: 2.75e1
variant carriers: 52

GenotypeQuality
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bin: 7.5e0
variant carriers: 32

GenotypeQuality
all individuals: 3468
bin: 4.75e1
variant carriers: 157

GenotypeQuality
all individuals: 254
bin: 1.25e1
variant carriers: 26

GenotypeQuality
all individuals: 3640
bin: 5.25e1
variant carriers: 205

GenotypeQuality
all individuals: 617
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variant carriers: 42

GenotypeQuality
all individuals: 1821
bin: 4.25e1
variant carriers: 82

GenotypeQuality
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bin: 3.25e1
variant carriers: 70

GenotypeQuality
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bin: 8.75e1
variant carriers: 143

GenotypeQuality
all individuals: 24195
bin: 9.75e1
variant carriers: 17921

GenotypeQuality
all individuals: 1911
bin: 8.25e1
variant carriers: 254

European (Finnish)
type: Population
allele count: 1292
allele frequency: 1.973121563836286e-1
allele num: 6548
num of homozygotes: 144

African
type: Population
allele count: 1039
allele frequency: 1.010307273434461e-1
allele num: 10284
num of homozygotes: 57

European (Non-Finnish)
type: Population
allele count: 12953
allele frequency: 1.985012413032151e-1
allele num: 65254
num of homozygotes: 1217

East Asian
type: Population
allele count: 166
allele frequency: 1.936085840914393e-2
allele num: 8574
num of homozygotes: 3

Latino
type: Population
allele count: 4087
allele frequency: 3.625798438608943e-1
allele num: 11272
num of homozygotes: 715

South Asian
type: Population
allele count: 2540
allele frequency: 1.758515646635281e-1
allele num: 14444
num of homozygotes: 243

Other
type: Population
allele count: 163
allele frequency: 1.869266055045871e-1
allele num: 872
num of homozygotes: 14

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.55e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.704e1

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.76e0

DP
type: SiteQuality
SIO_000300: 1.866628e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.026e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e-1

GenotypeDepth
all individuals: 275
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 90
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variant carriers: 0

GenotypeDepth
all individuals: 493
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GenotypeQuality
all individuals: 3936
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GenotypeQuality
all individuals: 546
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GenotypeQuality
all individuals: 3431
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GenotypeQuality
all individuals: 31235
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variant carriers: 0

GenotypeQuality
all individuals: 2899
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 1.75e1
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GenotypeQuality
all individuals: 918
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
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GenotypeQuality
all individuals: 942
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GenotypeQuality
all individuals: 4757
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GenotypeQuality
all individuals: 482
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GenotypeQuality
all individuals: 332
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GenotypeQuality
all individuals: 2650
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GenotypeQuality
all individuals: 2006
bin: 4.25e1
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GenotypeQuality
all individuals: 91
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GenotypeQuality
all individuals: 1804
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GenotypeQuality
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GenotypeQuality
all individuals: 1311
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GenotypeQuality
all individuals: 219
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GenotypeQuality
all individuals: 2889
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15288
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64000
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.780907668231612e-5
allele num: 10224
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.419e0

DP
type: SiteQuality
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ClippingRankSum
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MQRankSum
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MQ
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SIO_000300: 5.915e1

VQSLOD
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InbreedingCoeff
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SIO_000300: -5.0e-4

ReadPosRankSum
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SIO_000300: 5.28e-1

QD
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SIO_000300: 1.155e1

BaseQRankSum
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SIO_000300: 2.78e0

GenotypeDepth
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variant carriers: 0

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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bin: 6.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 1.30872922392357e-4
allele num: 15282
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 64068
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64150
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

South Asian
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allele num: 15350
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 1.95e1

ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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SIO_000300: 3.139e0

MQ
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SIO_000300: 6.05e1

DP
type: SiteQuality
SIO_000300: 1.494228e6

MQRankSum
type: SiteQuality
SIO_000300: 7.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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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bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6548
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.55714730613516e-5
allele num: 64220
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

East Asian
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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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MQRankSum
type: SiteQuality
SIO_000300: 4.48e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
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DP
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ReadPosRankSum
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QD
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FS
type: SiteQuality
SIO_000300: 3.369e0

BaseQRankSum
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SIO_000300: 3.87e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

ClippingRankSum
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SIO_000300: 1.64e0

GenotypeDepth
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.557195801800118e-5
allele num: 64218
num of homozygotes: 0

South Asian
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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FS
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MQ
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DP
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MQRankSum
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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GenotypeDepth
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variant carriers: 4

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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Other
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num of homozygotes: 0

African
type: Population
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Latino
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num of homozygotes: 0

East Asian
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European (Finnish)
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European (Non-Finnish)
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allele count: 25
allele frequency: 3.892019802596756e-4
allele num: 64234
num of homozygotes: 0

South Asian
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MQRankSum
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BaseQRankSum
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MQ
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VQSLOD
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FS
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DP
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ClippingRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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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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South Asian
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num of homozygotes: 0

Latino
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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allele count: 1
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allele num: 64336
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Other
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ClippingRankSum
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BaseQRankSum
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MQ
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FS
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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DP
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VQSLOD
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QD
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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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allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

European (Finnish)
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South Asian
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allele num: 15692
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East Asian
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Other
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European (Non-Finnish)
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allele frequency: 3.097509602279767e-5
allele num: 64568
num of homozygotes: 0

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

East Asian
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European (Finnish)
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South Asian
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European (Non-Finnish)
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Other
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Latino
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BaseQRankSum
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MQ
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ClippingRankSum
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ReadPosRankSum
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FS
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MQRankSum
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InbreedingCoeff
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QD
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DP
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VQSLOD
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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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South Asian
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Other
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European (Finnish)
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African
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Latino
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European (Non-Finnish)
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allele num: 64620
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East Asian
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MQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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InbreedingCoeff
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MQ
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QD
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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European (Non-Finnish)
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allele num: 64764
num of homozygotes: 0

African
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Other
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BaseQRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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FS
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QD
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DP
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ClippingRankSum
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VQSLOD
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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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South Asian
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num of homozygotes: 0

Other
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European (Non-Finnish)
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European (Finnish)
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African
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Latino
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East Asian
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ReadPosRankSum
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VQSLOD
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QD
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ClippingRankSum
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FS
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MQRankSum
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BaseQRankSum
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MQ
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DP
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InbreedingCoeff
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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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Other
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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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MQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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FS
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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QD
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MQ
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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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European (Finnish)
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African
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South Asian
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European (Non-Finnish)
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East Asian
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VQSLOD
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InbreedingCoeff
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MQRankSum
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FS
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MQ
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ReadPosRankSum
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QD
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BaseQRankSum
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DP
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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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bin: 3.75e1
variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.13421666053245e-5
allele num: 16302
num of homozygotes: 0

Other
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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: 8610
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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65540
num of homozygotes: 0

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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MQRankSum
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ReadPosRankSum
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SIO_000300: -9.55e-1

MQ
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VQSLOD
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InbreedingCoeff
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SIO_000300: -2.0e-4

QD
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ClippingRankSum
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SIO_000300: 5.53e-1

GenotypeDepth
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variant carriers: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16340
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.523043650431021e-5
allele num: 65658
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: 6590
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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InbreedingCoeff
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SIO_000300: -1.0e-4

ReadPosRankSum
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SIO_000300: 9.389999999999999e-1

MQRankSum
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MQ
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SIO_000300: 5.934e1

VQSLOD
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FS
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SIO_000300: 0.0e0

BaseQRankSum
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DP
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SIO_000300: 1.623429e6

ClippingRankSum
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QD
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SIO_000300: 8.960000000000001e0

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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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65774
num of homozygotes: 0

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

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

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

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

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

South Asian
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allele count: 1
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allele num: 16390
num of homozygotes: 0

ClippingRankSum
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SIO_000300: 1.7e-2

ReadPosRankSum
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SIO_000300: 9.81e-1

QD
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SIO_000300: 1.016e1

MQRankSum
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 2.0e-4

DP
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SIO_000300: 1.627282e6

FS
type: SiteQuality
SIO_000300: 2.333e0

VQSLOD
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SIO_000300: 1.73e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.101281269066504e-5
allele num: 16390
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65774
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 1.016e1

BaseQRankSum
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SIO_000300: 6.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

ClippingRankSum
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SIO_000300: 1.7e-2

InbreedingCoeff
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SIO_000300: 2.0e-4

MQ
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SIO_000300: 6.0e1

DP
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SIO_000300: 1.627282e6

FS
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SIO_000300: 2.333e0

ReadPosRankSum
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SIO_000300: 9.81e-1

VQSLOD
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SIO_000300: 1.73e0

GenotypeDepth
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66012
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

Other
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South Asian
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num of homozygotes: 0

East Asian
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African
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allele num: 10372
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InbreedingCoeff
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MQ
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FS
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ReadPosRankSum
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QD
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BaseQRankSum
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ClippingRankSum
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DP
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MQRankSum
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VQSLOD
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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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European (Non-Finnish)
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allele count: 1
allele frequency: 1.512813530604218e-5
allele num: 66102
num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
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African
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South Asian
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allele num: 16460
num of homozygotes: 0

European (Finnish)
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allele count: 0
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East Asian
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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QD
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MQ
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FS
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BaseQRankSum
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DP
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MQRankSum
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InbreedingCoeff
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GenotypeDepth
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variant carriers: 0

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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Other
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East Asian
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European (Finnish)
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Latino
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African
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European (Non-Finnish)
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South Asian
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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DP
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MQRankSum
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MQ
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FS
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ClippingRankSum
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VQSLOD
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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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variant carriers: 2

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66210
num of homozygotes: 0

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

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

African
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allele count: 2
allele frequency: 1.927153594141453e-4
allele num: 10378
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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VQSLOD
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SIO_000300: 1.03e0

ClippingRankSum
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SIO_000300: 1.12e0

QD
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ReadPosRankSum
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FS
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -1.0e-4

MQRankSum
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BaseQRankSum
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SIO_000300: -8.84e-1

DP
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SIO_000300: 1.644079e6

MQ
type: SiteQuality
SIO_000300: 5.984e1

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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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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num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.510026576467746e-5
allele num: 66224
num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
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MQRankSum
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SIO_000300: -4.15e0

VQSLOD
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InbreedingCoeff
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FS
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BaseQRankSum
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QD
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ReadPosRankSum
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ClippingRankSum
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MQ
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SIO_000300: 5.482e1

DP
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SIO_000300: 1.644347e6

GenotypeDepth
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variant carriers: 4

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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bin: 8.75e1
variant carriers: 0

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

Latino
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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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num of homozygotes: 0

African
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 7
allele frequency: 1.057178240251306e-4
allele num: 66214
num of homozygotes: 0

East Asian
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QD
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SIO_000300: 1.041e1

InbreedingCoeff
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DP
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BaseQRankSum
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FS
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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SIO_000300: -6.53e-1

MQ
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SIO_000300: 5.917e1

VQSLOD
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SIO_000300: 3.5e-1

GenotypeDepth
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variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.645061728395061e-5
allele num: 10368
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66250
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
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num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
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SIO_000300: 5.2e-1

MQ
type: SiteQuality
SIO_000300: 5.805e1

FS
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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QD
type: SiteQuality
SIO_000300: 1.437e1

DP
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SIO_000300: 1.645763e6

GenotypeDepth
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variant carriers: 0

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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Other
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allele num: 904
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.019506008816958e-5
allele num: 66236
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
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DP
type: SiteQuality
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FS
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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BaseQRankSum
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MQRankSum
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QD
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ClippingRankSum
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SIO_000300: -7.32e-1

GenotypeDepth
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variant carriers: 0

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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allele count: 0
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allele num: 10328
num of homozygotes: 0

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

Latino
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allele frequency: 8.664009703690868e-5
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.512538947877908e-5
allele num: 66114
num of homozygotes: 0

South Asian
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Other
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European (Finnish)
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FS
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MQRankSum
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ClippingRankSum
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MQ
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QD
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.514096235956757e-5
allele num: 66046
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European (Finnish)
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Latino
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num of homozygotes: 0

African
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East Asian
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Other
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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DP
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FS
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VQSLOD
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MQ
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GenotypeDepth
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variant carriers: 0

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

East Asian
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allele frequency: 0.0e0
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African
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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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Other
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.514096235956757e-5
allele num: 66046
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MQRankSum
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VQSLOD
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MQ
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BaseQRankSum
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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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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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allele frequency: 0.0e0
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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 (Non-Finnish)
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MQRankSum
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BaseQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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FS
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ClippingRankSum
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InbreedingCoeff
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DP
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QD
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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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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele num: 8638
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European (Finnish)
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Other
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South Asian
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Latino
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African
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VQSLOD
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MQRankSum
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ReadPosRankSum
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MQ
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BaseQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

East Asian
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Other
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European (Finnish)
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South Asian
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African
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Latino
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VQSLOD
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MQ
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FS
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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MQRankSum
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DP
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ReadPosRankSum
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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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South Asian
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East Asian
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African
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European (Non-Finnish)
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Latino
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European (Finnish)
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Other
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VQSLOD
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MQRankSum
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ReadPosRankSum
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QD
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DP
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MQ
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InbreedingCoeff
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FS
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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African
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Other
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South Asian
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Latino
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FS
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DP
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MQ
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BaseQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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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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Latino
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European (Finnish)
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South Asian
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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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QD
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VQSLOD
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BaseQRankSum
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SIO_000300: -1.966e0

ReadPosRankSum
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FS
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SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: -3.54e-1

InbreedingCoeff
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MQ
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SIO_000300: 5.987e1

DP
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SIO_000300: 1.621073e6

MQRankSum
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SIO_000300: -5.9e-2

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 1.852309212151148e-4
allele num: 16196
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65316
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.284e0

ClippingRankSum
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ReadPosRankSum
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MQRankSum
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VQSLOD
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QD
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MQ
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InbreedingCoeff
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DP
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SIO_000300: 1.618049e6

FS
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SIO_000300: 6.135e0

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

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

African
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.689607229753215e-5
allele num: 11508
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.16827041697508e-5
allele num: 64848
num of homozygotes: 0

DP
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SIO_000300: 1.601309e6

ReadPosRankSum
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SIO_000300: -9.379999999999999e-1

FS
type: SiteQuality
SIO_000300: 4.523e0

MQRankSum
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SIO_000300: 4.55e-1

VQSLOD
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InbreedingCoeff
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SIO_000300: -4.0e-4

MQ
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SIO_000300: 5.903e1

QD
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SIO_000300: 1.707e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.73e-1

GenotypeDepth
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variant carriers: 1

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)
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allele count: 4
allele frequency: 6.169602369127309e-5
allele num: 64834
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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allele num: 904
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Latino
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allele count: 1
allele frequency: 8.689607229753215e-5
allele num: 11508
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10060
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
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FS
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ReadPosRankSum
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QD
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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DP
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MQRankSum
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ClippingRankSum
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MQ
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SIO_000300: 5.899e1

GenotypeDepth
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variant carriers: 0

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 (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

East Asian
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num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 64538
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Other
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African
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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FS
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BaseQRankSum
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QD
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InbreedingCoeff
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MQRankSum
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DP
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MQ
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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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Latino
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allele frequency: 0.0e0
allele num: 11384
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East Asian
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Other
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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African
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European (Non-Finnish)
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allele num: 63054
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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VQSLOD
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QD
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FS
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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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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East Asian
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South Asian
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African
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European (Finnish)
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Other
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VQSLOD
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BaseQRankSum
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MQRankSum
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MQ
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DP
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ReadPosRankSum
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ClippingRankSum
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FS
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QD
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InbreedingCoeff
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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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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58494
num of homozygotes: 0

South Asian
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African
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Latino
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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: 838
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.273556e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.89e-1

FS
type: SiteQuality
SIO_000300: 3.096e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

MQRankSum
type: SiteQuality
SIO_000300: -1.971e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

QD
type: SiteQuality
SIO_000300: 3.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.479e0

VQSLOD
type: SiteQuality
SIO_000300: -3.713e0

GenotypeDepth
all individuals: 192
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6354
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17160
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4674
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 935
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6501
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3713
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14832
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 933
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2058
bin: 6.75e1
variant carriers: 0