15-58001299-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001299
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001299
    reference: chr 15
allele count: 5
allele frequency: 4.123983438082513e-5
allele num: 121242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2883A>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.501A>T
  hgvsp: ENSP00000369937.2:p.Glu167Asp
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.367-84A>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1692A>T
  hgvsp: ENSP00000465231.1:p.Glu564Asp
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.114-84A>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.511A>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1165A>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2883A>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2883A>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.501A>T
  hgvsp: ENSP00000299638.3:p.Glu167Asp
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2883A>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.501A>T
  hgvsp: ENSP00000432615.1:p.Glu167Asp
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5435A>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2883A>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000437015
  ensembl transcript: ENST00000464277
  gene symbol: POLR2M
  hgvsc: ENST00000464277.1:c.*570A>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*574A>T
  variant of: http://identifiers.org/hgnc/14862
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8554
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu167Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

15-58001301-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001301
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001301
    reference: chr 15
allele count: 7
allele frequency: 5.772814989526464e-5
allele num: 121258
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1694C>G
  hgvsp: ENSP00000465231.1:p.Ala565Gly
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.513C>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1167C>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.503C>G
  hgvsp: ENSP00000432615.1:p.Ala168Gly
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2881C>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2881C>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.503C>G
  hgvsp: ENSP00000299638.3:p.Ala168Gly
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*576C>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5433C>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.503C>G
  hgvsp: ENSP00000369937.2:p.Ala168Gly
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.114-82C>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2881C>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000437015
  ensembl transcript: ENST00000464277
  gene symbol: POLR2M
  hgvsc: ENST00000464277.1:c.*572C>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2881C>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2881C>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.367-82C>G
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20692
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala168Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum

15-58001318-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001318
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001318
    reference: chr 15
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2864C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000437015
  ensembl transcript: ENST00000464277
  gene symbol: POLR2M
  hgvsc: ENST00000464277.1:c.*589C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2864C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.520C>T
  hgvsp: ENSP00000299638.3:p.Arg174Trp
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.520C>T
  hgvsp: ENSP00000369937.2:p.Arg174Trp
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.520C>T
  hgvsp: ENSP00000432615.1:p.Arg174Trp
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1184C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.114-65C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.367-65C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1711C>T
  hgvsp: ENSP00000465231.1:p.Arg571Trp
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2864C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*593C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2864C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2864C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.530C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5416C>T
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg174Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

15-58001319-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001319
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001319
    reference: chr 15
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.367-64G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.521G>A
  hgvsp: ENSP00000369937.2:p.Arg174Gln
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2863G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*594G>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1712G>A
  hgvsp: ENSP00000465231.1:p.Arg571Gln
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.521G>A
  hgvsp: ENSP00000299638.3:p.Arg174Gln
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2863G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5415G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000437015
  ensembl transcript: ENST00000464277
  gene symbol: POLR2M
  hgvsc: ENST00000464277.1:c.*590G>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1185G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2863G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.521G>A
  hgvsp: ENSP00000432615.1:p.Arg174Gln
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.114-64G>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2863G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2863G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.531G>A
  variant of: http://identifiers.org/hgnc/14862
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg174Gln
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

15-58001324-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001324
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001324
    reference: chr 15
allele count: 5
allele frequency: 4.120381052839767e-5
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2858C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.526C>T
  hgvsp: ENSP00000432615.1:p.Arg176Cys
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.526C>T
  hgvsp: ENSP00000299638.3:p.Arg176Cys
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.114-59C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000437015
  ensembl transcript: ENST00000464277
  gene symbol: POLR2M
  hgvsc: ENST00000464277.1:c.*595C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1190C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1717C>T
  hgvsp: ENSP00000465231.1:p.Arg573Cys
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.526C>T
  hgvsp: ENSP00000369937.2:p.Arg176Cys
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5410C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.367-59C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.536C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*599C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2858C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2858C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2858C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2858C>T
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg176Cys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

15-58001325-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001325
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001325
    reference: chr 15
allele count: 39
allele frequency: 3.214056138847225e-4
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.367-58G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000437015
  ensembl transcript: ENST00000464277
  gene symbol: POLR2M
  hgvsc: ENST00000464277.1:c.*596G>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.114-58G>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1718G>A
  hgvsp: ENSP00000465231.1:p.Arg573His
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1191G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2857G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*600G>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.527G>A
  hgvsp: ENSP00000299638.3:p.Arg176His
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.537G>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2857G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5409G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2857G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.527G>A
  hgvsp: ENSP00000369937.2:p.Arg176His
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2857G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.527G>A
  hgvsp: ENSP00000432615.1:p.Arg176His
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2857G>A
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Arg176His
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

15-58001327-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001327
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001327
    reference: chr 15
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.529G>A
  hgvsp: ENSP00000369937.2:p.Val177Ile
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.529G>A
  hgvsp: ENSP00000299638.3:p.Val177Ile
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2855G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.539G>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.114-56G>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5407G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*602G>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1193G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2855G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000437015
  ensembl transcript: ENST00000464277
  gene symbol: POLR2M
  hgvsc: ENST00000464277.1:c.*598G>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2855G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1720G>A
  hgvsp: ENSP00000465231.1:p.Val574Ile
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.529G>A
  hgvsp: ENSP00000432615.1:p.Val177Ile
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.367-56G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2855G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2855G>A
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2764
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8697
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val177Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum

15-58001336-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001336
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001336
    reference: chr 15
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*611C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.114-47C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.538C>T
  hgvsp: ENSP00000369937.2:p.Gln180Ter
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.538C>T
  hgvsp: ENSP00000299638.3:p.Gln180Ter
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000437015
  ensembl transcript: ENST00000464277
  gene symbol: POLR2M
  hgvsc: ENST00000464277.1:c.*607C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1729C>T
  hgvsp: ENSP00000465231.1:p.Gln577Ter
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2846C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.367-47C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.538C>T
  hgvsp: ENSP00000432615.1:p.Gln180Ter
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2846C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1202C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2846C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.548C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2846C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2846C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5398C>T
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln180Ter
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

15-58001340-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001340
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001340
    reference: chr 15
allele count: 9
allele frequency: 7.414974953862378e-5
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2842C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.114-43C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.542C>T
  hgvsp: ENSP00000299638.3:p.Ala181Val
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.542C>T
  hgvsp: ENSP00000369937.2:p.Ala181Val
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.542C>T
  hgvsp: ENSP00000432615.1:p.Ala181Val
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1733C>T
  hgvsp: ENSP00000465231.1:p.Ala578Val
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000437015
  ensembl transcript: ENST00000464277
  gene symbol: POLR2M
  hgvsc: ENST00000464277.1:c.*611C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2842C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*615C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5394C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1206C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2842C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2842C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.367-43C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2842C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.552C>T
  variant of: http://identifiers.org/hgnc/14862
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala181Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

15-58001341-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001341
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001341
    reference: chr 15
allele count: 104
allele frequency: 8.568839087089066e-4
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1207G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.553G>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000437015
  ensembl transcript: ENST00000464277
  gene symbol: POLR2M
  hgvsc: ENST00000464277.1:c.*612G>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2841G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.114-42G>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.543G>A
  hgvsp: ENST00000482852.1:c.543G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1734G>A
  hgvsp: ENST00000587652.1:c.1734G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2841G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.543G>A
  hgvsp: ENST00000380563.2:c.543G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.367-42G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5393G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2841G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2841G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*616G>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.543G>A
  hgvsp: ENST00000299638.3:c.543G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2841G>A
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 21118
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 8738
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 23696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
hgvs: p.Ala181Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

15-58001344-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001344
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001344
    reference: chr 15
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2838A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.114-39A>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2838A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.546A>G
  hgvsp: ENST00000482852.1:c.546A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5390A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.546A>G
  hgvsp: ENST00000380563.2:c.546A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000437015
  ensembl transcript: ENST00000464277
  gene symbol: POLR2M
  hgvsc: ENST00000464277.1:c.*615A>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2838A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.546A>G
  hgvsp: ENST00000299638.3:c.546A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.556A>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1210A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*619A>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2838A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1737A>G
  hgvsp: ENST00000587652.1:c.1737A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.367-39A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2838A>G
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21179
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu182Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/15-58001349-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001349
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001349
    reference: chr 15
allele count: 4
allele frequency: 3.295272930980509e-5
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2833C>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5385C>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.367-34C>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.561C>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1215C>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.114-34C>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2833C>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.551C>A
  hgvsp: ENSP00000432615.1:p.Thr184Asn
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.551C>A
  hgvsp: ENSP00000299638.3:p.Thr184Asn
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1742C>A
  hgvsp: ENSP00000465231.1:p.Thr581Asn
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.551C>A
  hgvsp: ENSP00000369937.2:p.Thr184Asn
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000437015
  ensembl transcript: ENST00000464277
  gene symbol: POLR2M
  hgvsc: ENST00000464277.1:c.*620C>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2833C>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2833C>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*624C>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2833C>A
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr184Asn
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

15-58001351-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001351
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001352
    reference: chr 15
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1746dupC
  hgvsp: ENSP00000465231.1:p.Ser583GlnfsTer4
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2829dupC
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.555dupC
  hgvsp: ENSP00000369937.2:p.Ser186GlnfsTer4
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.555dupC
  hgvsp: ENSP00000299638.3:p.Ser186GlnfsTer4
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1219dupC
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.114-30dupC
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000437015
  ensembl transcript: ENST00000464277
  gene symbol: POLR2M
  hgvsc: ENST00000464277.1:c.*624dupC
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*628dupC
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.555dupC
  hgvsp: ENSP00000432615.1:p.Ser186GlnfsTer4
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2829dupC
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2829dupC
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5381dupC
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2829dupC
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2829dupC
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.565dupC
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.367-30dupC
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21207
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser186GlnfsTer4
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum

15-58001358-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001358
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001358
    reference: chr 15
allele count: 3
allele frequency: 2.471413978317461e-5
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.560G>C
  hgvsp: ENSP00000369937.2:p.Ser187Thr
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2824G>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000437015
  ensembl transcript: ENST00000464277
  gene symbol: POLR2M
  hgvsc: ENST00000464277.1:c.*629G>C
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.560G>C
  hgvsp: ENSP00000299638.3:p.Ser187Thr
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1751G>C
  hgvsp: ENSP00000465231.1:p.Ser584Thr
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2824G>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.367-25G>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*633G>C
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.570G>C
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2824G>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2824G>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1224G>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.560G>C
  hgvsp: ENSP00000432615.1:p.Ser187Thr
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.114-25G>C
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5376G>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2824G>C
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8762
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21229
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser187Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

15-58001363-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001363
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001363
    reference: chr 15
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5371G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*638G>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1756G>A
  hgvsp: ENSP00000465231.1:p.Asp586Asn
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.565G>A
  hgvsp: ENSP00000299638.3:p.Asp189Asn
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.367-20G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2819G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1229G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.565G>A
  hgvsp: ENSP00000432615.1:p.Asp189Asn
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.575G>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2819G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2819G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.565G>A
  hgvsp: ENSP00000369937.2:p.Asp189Asn
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.114-20G>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2819G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000437015
  ensembl transcript: ENST00000464277
  gene symbol: POLR2M
  hgvsc: ENST00000464277.1:c.*634G>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2819G>A
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8757
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp189Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

15-58001367-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001367
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001367
    reference: chr 15
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.569A>G
  hgvsp: ENSP00000369937.2:p.Asn190Ser
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.114-16A>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2815A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.579A>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5367A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.569A>G
  hgvsp: ENSP00000299638.3:p.Asn190Ser
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.367-16A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.569A>G
  hgvsp: ENSP00000432615.1:p.Asn190Ser
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1760A>G
  hgvsp: ENSP00000465231.1:p.Asn587Ser
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*642A>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000437015
  ensembl transcript: ENST00000464277
  gene symbol: POLR2M
  hgvsc: ENST00000464277.1:c.*638A>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2815A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2815A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2815A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1233A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2815A>G
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn190Ser
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

15-58001392-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001392
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001392
    reference: chr 15
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2790G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.604G>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1258G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*667G>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.594G>A
  hgvsp: ENST00000299638.3:c.594G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.594G>A
  hgvsp: ENST00000482852.1:c.594G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.376G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2790G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1785G>A
  hgvsp: ENST00000587652.1:c.1785G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2790G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2790G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.123G>A
  hgvsp: ENST00000380557.4:c.123G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.594G>A
  hgvsp: ENST00000380563.2:c.594G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2790G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5342G>A
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21255
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg198Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

15-58001395-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001395
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001395
    reference: chr 15
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2787C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.607C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*670C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.597C>T
  hgvsp: ENST00000299638.3:c.597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.597C>T
  hgvsp: ENST00000380563.2:c.597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5339C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1788C>T
  hgvsp: ENST00000587652.1:c.1788C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.379C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2787C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2787C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1261C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.126C>T
  hgvsp: ENST00000380557.4:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.597C>T
  hgvsp: ENST00000482852.1:c.597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2787C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2787C>T
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 23568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile199Ile
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP

15-58001397-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001397
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001397
    reference: chr 15
allele count: 2
allele frequency: 1.647907980818351e-5
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2785C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.599C>T
  hgvsp: ENSP00000432615.1:p.Thr200Ile
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1790C>T
  hgvsp: ENSP00000465231.1:p.Thr597Ile
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.599C>T
  hgvsp: ENSP00000369937.2:p.Thr200Ile
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.599C>T
  hgvsp: ENSP00000299638.3:p.Thr200Ile
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1263C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*672C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.128C>T
  hgvsp: ENSP00000369930.4:p.Thr43Ile
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.609C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2785C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2785C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2785C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5337C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.381C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2785C>T
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr200Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ

15-58001399-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001399
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001399
    reference: chr 15
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2783A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.130A>G
  hgvsp: ENSP00000369930.4:p.Ile44Val
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*674A>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.611A>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.383A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2783A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.601A>G
  hgvsp: ENSP00000299638.3:p.Ile201Val
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.601A>G
  hgvsp: ENSP00000432615.1:p.Ile201Val
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.601A>G
  hgvsp: ENSP00000369937.2:p.Ile201Val
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5335A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1265A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2783A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2783A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1792A>G
  hgvsp: ENSP00000465231.1:p.Ile598Val
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2783A>G
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile201Val
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

15-58001403-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001403
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001403
    reference: chr 15
allele count: 66
allele frequency: 5.438275572254907e-4
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1796C>T
  hgvsp: ENSP00000465231.1:p.Ala599Val
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.134C>T
  hgvsp: ENSP00000369930.4:p.Ala45Val
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*678C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.605C>T
  hgvsp: ENSP00000299638.3:p.Ala202Val
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.605C>T
  hgvsp: ENSP00000369937.2:p.Ala202Val
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2779C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.605C>T
  hgvsp: ENSP00000432615.1:p.Ala202Val
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1269C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2779C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2779C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.387C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2779C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.615C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2779C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5331C>T
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23498
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8771
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala202Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

15-58001404-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001404
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001404
    reference: chr 15
allele count: 4
allele frequency: 3.295924589245398e-5
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1797G>A
  hgvsp: ENST00000587652.1:c.1797G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.388G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.616G>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.606G>A
  hgvsp: ENST00000299638.3:c.606G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2778G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2778G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.606G>A
  hgvsp: ENST00000380563.2:c.606G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.606G>A
  hgvsp: ENST00000482852.1:c.606G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.135G>A
  hgvsp: ENST00000380557.4:c.135G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5330G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1270G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2778G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2778G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2778G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*679G>A
  variant of: http://identifiers.org/hgnc/14862
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala202Ala
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

15-58001411-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001411
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001411
    reference: chr 15
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.613G>C
  hgvsp: ENSP00000369937.2:p.Gly205Arg
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1804G>C
  hgvsp: ENSP00000465231.1:p.Gly602Arg
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.613G>C
  hgvsp: ENSP00000432615.1:p.Gly205Arg
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*686G>C
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2771G>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.395G>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5323G>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1277G>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2771G>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2771G>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2771G>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2771G>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.613G>C
  hgvsp: ENSP00000299638.3:p.Gly205Arg
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.623G>C
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.142G>C
  hgvsp: ENSP00000369930.4:p.Gly48Arg
  variant of: http://identifiers.org/hgnc/14862
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly205Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

15-58001412-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001412
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001412
    reference: chr 15
allele count: 6
allele frequency: 4.944294284395807e-5
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1805G>A
  hgvsp: ENSP00000465231.1:p.Gly602Asp
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.624G>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2770G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.396G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*687G>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5322G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2770G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2770G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.614G>A
  hgvsp: ENSP00000432615.1:p.Gly205Asp
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1278G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.614G>A
  hgvsp: ENSP00000369937.2:p.Gly205Asp
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.614G>A
  hgvsp: ENSP00000299638.3:p.Gly205Asp
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.143G>A
  hgvsp: ENSP00000369930.4:p.Gly48Asp
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2770G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2770G>A
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8777
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly205Asp
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

15-58001422-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001422
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001422
    reference: chr 15
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1815G>A
  hgvsp: ENST00000587652.1:c.1815G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.624G>A
  hgvsp: ENST00000299638.3:c.624G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2760G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2760G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.406G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*697G>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.624G>A
  hgvsp: ENST00000380563.2:c.624G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.153G>A
  hgvsp: ENST00000380557.4:c.153G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1288G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.634G>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2760G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2760G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.624G>A
  hgvsp: ENST00000482852.1:c.624G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2760G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5312G>A
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8785
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln208Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

15-58001423-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001423
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001423
    reference: chr 15
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2759T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2759T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*698T>C
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5311T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2759T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1816T>C
  hgvsp: ENSP00000465231.1:p.Ser606Pro
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.625T>C
  hgvsp: ENSP00000369937.2:p.Ser209Pro
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2759T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.625T>C
  hgvsp: ENSP00000432615.1:p.Ser209Pro
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2759T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.154T>C
  hgvsp: ENSP00000369930.4:p.Ser52Pro
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1289T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.635T>C
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.625T>C
  hgvsp: ENSP00000299638.3:p.Ser209Pro
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.407T>C
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8785
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser209Pro
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD

15-58001424-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001424
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001424
    reference: chr 15
allele count: 123
allele frequency: 1.013730693787397e-3
allele num: 121334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1290C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2758C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2758C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1817C>T
  hgvsp: ENSP00000465231.1:p.Ser606Leu
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2758C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.155C>T
  hgvsp: ENSP00000369930.4:p.Ser52Leu
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.626C>T
  hgvsp: ENSP00000369937.2:p.Ser209Leu
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.626C>T
  hgvsp: ENSP00000432615.1:p.Ser209Leu
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.636C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*699C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.408C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.626C>T
  hgvsp: ENSP00000299638.3:p.Ser209Leu
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2758C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2758C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5310C>T
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8769
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23359
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21260
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: p.Ser209Leu
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

15-58001426-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001426
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001426
    reference: chr 15
allele count: 4
allele frequency: 3.296848213108268e-5
allele num: 121328
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5308G>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.628G>C
  hgvsp: ENSP00000299638.3:p.Glu210Gln
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2756G>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.628G>C
  hgvsp: ENSP00000369937.2:p.Glu210Gln
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2756G>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*701G>C
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1819G>C
  hgvsp: ENSP00000465231.1:p.Glu607Gln
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2756G>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.410G>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.628G>C
  hgvsp: ENSP00000432615.1:p.Glu210Gln
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1292G>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2756G>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.638G>C
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.157G>C
  hgvsp: ENSP00000369930.4:p.Glu53Gln
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2756G>C
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu210Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP

15-58001433-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001433
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001433
    reference: chr 15
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2749A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.164A>G
  hgvsp: ENSP00000369930.4:p.Asn55Ser
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.645A>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5301A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.635A>G
  hgvsp: ENSP00000369937.2:p.Asn212Ser
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2749A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.635A>G
  hgvsp: ENSP00000299638.3:p.Asn212Ser
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1826A>G
  hgvsp: ENSP00000465231.1:p.Asn609Ser
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2749A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1299A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*708A>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2749A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.635A>G
  hgvsp: ENSP00000432615.1:p.Asn212Ser
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.417A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2749A>G
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn212Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

15-58001434-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001434
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001434
    reference: chr 15
allele count: 8
allele frequency: 6.59467480009892e-5
allele num: 121310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2748C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2748C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.636C>T
  hgvsp: ENST00000299638.3:c.636C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1827C>T
  hgvsp: ENST00000587652.1:c.1827C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1300C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.636C>T
  hgvsp: ENST00000380563.2:c.636C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*709C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5300C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.165C>T
  hgvsp: ENST00000380557.4:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2748C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.636C>T
  hgvsp: ENST00000482852.1:c.636C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2748C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.418C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.646C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2748C>T
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn212Asn
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

15-58001435-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001435
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001435
    reference: chr 15
allele count: 22
allele frequency: 1.813655174687969e-4
allele num: 121302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.637G>A
  hgvsp: ENSP00000432615.1:p.Ala213Thr
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.166G>A
  hgvsp: ENSP00000369930.4:p.Ala56Thr
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5299G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*710G>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2747G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1828G>A
  hgvsp: ENSP00000465231.1:p.Ala610Thr
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2747G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.647G>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2747G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1301G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.637G>A
  hgvsp: ENSP00000369937.2:p.Ala213Thr
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.419G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.637G>A
  hgvsp: ENSP00000299638.3:p.Ala213Thr
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2747G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2747G>A
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21269
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Ala213Thr
num of homozygotes: 2
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

15-58001452-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001452
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001452
    reference: chr 15
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1845G>T
  hgvsp: ENSP00000465231.1:p.Leu615Phe
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.654G>T
  hgvsp: ENSP00000432615.1:p.Leu218Phe
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.436G>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.654G>T
  hgvsp: ENSP00000369937.2:p.Leu218Phe
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5282G>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2730G>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.183G>T
  hgvsp: ENSP00000369930.4:p.Leu61Phe
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2730G>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.654G>T
  hgvsp: ENSP00000299638.3:p.Leu218Phe
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2730G>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2730G>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2730G>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1318G>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.664G>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*727G>T
  variant of: http://identifiers.org/hgnc/14862
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8796
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu218Phe
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum

15-58001458-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001458
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001458
    reference: chr 15
allele count: 15
allele frequency: 1.236746203189156e-4
allele num: 121286
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.189C>T
  hgvsp: ENST00000380557.4:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1851C>T
  hgvsp: ENST00000587652.1:c.1851C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.442C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.660C>T
  hgvsp: ENST00000380563.2:c.660C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2724C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2724C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.660C>T
  hgvsp: ENST00000299638.3:c.660C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.670C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2724C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.660C>T
  hgvsp: ENST00000482852.1:c.660C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2724C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2724C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5276C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*733C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1324C>T
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21363
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: p.Gly220Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

15-58001459-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001459
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001459
    reference: chr 15
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5275C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*734C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.190C>T
  hgvsp: ENSP00000369930.4:p.Leu64Phe
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.661C>T
  hgvsp: ENSP00000299638.3:p.Leu221Phe
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.661C>T
  hgvsp: ENSP00000369937.2:p.Leu221Phe
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1852C>T
  hgvsp: ENSP00000465231.1:p.Leu618Phe
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2723C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2723C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.671C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.661C>T
  hgvsp: ENSP00000432615.1:p.Leu221Phe
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2723C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2723C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2723C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1325C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.443C>T
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21385
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu221Phe
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

15-58001466-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001466
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001466
    reference: chr 15
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.668G>C
  hgvsp: ENSP00000369937.2:p.Ser223Thr
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2716G>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.668G>C
  hgvsp: ENSP00000432615.1:p.Ser223Thr
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.450G>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2716G>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5268G>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1859G>C
  hgvsp: ENSP00000465231.1:p.Ser620Thr
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2716G>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*741G>C
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2716G>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.197G>C
  hgvsp: ENSP00000369930.4:p.Ser66Thr
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2716G>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.668G>C
  hgvsp: ENSP00000299638.3:p.Ser223Thr
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1332G>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.678G>C
  variant of: http://identifiers.org/hgnc/14862
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8818
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser223Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

15-58001473-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001473
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001473
    reference: chr 15
allele count: 5
allele frequency: 4.123031252576895e-5
allele num: 121270
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2709T>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.204T>G
  hgvsp: ENST00000380557.4:c.204T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*748T>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1339T>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.675T>G
  hgvsp: ENST00000380563.2:c.675T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.675T>G
  hgvsp: ENST00000482852.1:c.675T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.675T>G
  hgvsp: ENST00000299638.3:c.675T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2709T>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5261T>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1866T>G
  hgvsp: ENST00000587652.1:c.1866T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2709T>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2709T>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.457T>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.685T>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2709T>G
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr225Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD

15-58001476-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001476
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001476
    reference: chr 15
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.688G>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.678G>T
  hgvsp: ENSP00000299638.3:p.Glu226Asp
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.460G>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5258G>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.678G>T
  hgvsp: ENSP00000432615.1:p.Glu226Asp
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1869G>T
  hgvsp: ENSP00000465231.1:p.Glu623Asp
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2706G>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*751G>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.678G>T
  hgvsp: ENSP00000369937.2:p.Glu226Asp
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2706G>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2706G>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.207G>T
  hgvsp: ENSP00000369930.4:p.Glu69Asp
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1342G>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2706G>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2706G>T
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8825
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21459
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu226Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

15-58001489-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001489
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001489
    reference: chr 15
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.220T>C
  hgvsp: ENSP00000369930.4:p.Tyr74His
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2693T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.691T>C
  hgvsp: ENSP00000299638.3:p.Tyr231His
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1882T>C
  hgvsp: ENSP00000465231.1:p.Tyr628His
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*764T>C
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.691T>C
  hgvsp: ENSP00000432615.1:p.Tyr231His
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5245T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1355T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2693T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2693T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.701T>C
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.691T>C
  hgvsp: ENSP00000369937.2:p.Tyr231His
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2693T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2693T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.473T>C
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr231His
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

15-58001492-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001492
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001492
    reference: chr 15
allele count: 3
allele frequency: 2.475165836111019e-5
allele num: 121204
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*767A>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1358A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2690A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.704A>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.476A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.694A>G
  hgvsp: ENSP00000369937.2:p.Met232Val
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1885A>G
  hgvsp: ENSP00000465231.1:p.Met629Val
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2690A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.694A>G
  hgvsp: ENSP00000432615.1:p.Met232Val
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.694A>G
  hgvsp: ENSP00000299638.3:p.Met232Val
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.223A>G
  hgvsp: ENSP00000369930.4:p.Met75Val
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2690A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2690A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5242A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2690A>G
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met232Val
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD

15-58001492-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001492
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001492
    reference: chr 15
allele count: 2
allele frequency: 1.650110557407346e-5
allele num: 121204
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.694A>T
  hgvsp: ENSP00000299638.3:p.Met232Leu
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2690A>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2690A>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.694A>T
  hgvsp: ENSP00000432615.1:p.Met232Leu
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.476A>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*767A>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.223A>T
  hgvsp: ENSP00000369930.4:p.Met75Leu
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1885A>T
  hgvsp: ENSP00000465231.1:p.Met629Leu
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1358A>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.704A>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.694A>T
  hgvsp: ENSP00000369937.2:p.Met232Leu
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2690A>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5242A>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2690A>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2690A>T
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8820
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met232Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/15-58001510-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001510
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001510
    reference: chr 15
allele count: 1
allele frequency: 8.265692417053776e-6
allele num: 120982
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.712C>A
  hgvsp: ENST00000380563.2:c.712C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.494C>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.712C>A
  hgvsp: ENST00000482852.1:c.712C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2672C>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2672C>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1376C>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2672C>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.241C>A
  hgvsp: ENST00000380557.4:c.241C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1903C>A
  hgvsp: ENST00000587652.1:c.1903C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2672C>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.722C>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.712C>A
  hgvsp: ENST00000299638.3:c.712C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5224C>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*785C>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2672C>A
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8802
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg238Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

15-58001513-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001513
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001513
    reference: chr 15
allele count: 4
allele frequency: 3.307698668651286e-5
allele num: 120930
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.715G>T
  hgvsp: ENSP00000299638.3:p.Ala239Ser
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.715G>T
  hgvsp: ENSP00000369937.2:p.Ala239Ser
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2669G>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.725G>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5221G>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.497G>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.715G>T
  hgvsp: ENSP00000432615.1:p.Ala239Ser
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*788G>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.244G>T
  hgvsp: ENSP00000369930.4:p.Ala82Ser
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1906G>T
  hgvsp: ENSP00000465231.1:p.Ala636Ser
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1379G>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2669G>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2669G>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2669G>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2669G>T
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala239Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

15-58001522-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001522
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001522
    reference: chr 15
allele count: 1
allele frequency: 8.293799555452344e-6
allele num: 120572
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.724C>G
  hgvsp: ENSP00000369937.2:p.Pro242Ala
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2660C>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.724C>G
  hgvsp: ENSP00000299638.3:p.Pro242Ala
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2660C>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1388C>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.253C>G
  hgvsp: ENSP00000369930.4:p.Pro85Ala
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2660C>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1915C>G
  hgvsp: ENSP00000465231.1:p.Pro639Ala
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.734C>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2660C>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*797C>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.724C>G
  hgvsp: ENSP00000432615.1:p.Pro242Ala
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.506C>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2660C>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5212C>G
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro242Ala
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

15-58001526-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001526
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001526
    reference: chr 15
allele count: 1
allele frequency: 8.314901967305805e-6
allele num: 120266
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*801T>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2656T>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2656T>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2656T>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2656T>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.738T>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.728T>G
  hgvsp: ENSP00000432615.1:p.Val243Gly
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.728T>G
  hgvsp: ENSP00000369937.2:p.Val243Gly
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.510T>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.728T>G
  hgvsp: ENSP00000299638.3:p.Val243Gly
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5208T>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.257T>G
  hgvsp: ENSP00000369930.4:p.Val86Gly
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2656T>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1392T>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1919T>G
  hgvsp: ENSP00000465231.1:p.Val640Gly
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val243Gly
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

15-58001527-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001527
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001527
    reference: chr 15
allele count: 29
allele frequency: 2.411441875935473e-4
allele num: 120260
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.729G>A
  hgvsp: ENST00000482852.1:c.729G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2655G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1393G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.258G>A
  hgvsp: ENST00000380557.4:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000255529
  ensembl transcript: ENST00000464308
  gene symbol: POLR2M
  hgvsc: ENST00000464308.1:n.739G>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2655G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.729G>A
  hgvsp: ENST00000380563.2:c.729G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2655G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.511G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.729G>A
  hgvsp: ENST00000299638.3:c.729G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1920G>A
  hgvsp: ENST00000587652.1:c.1920G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*802G>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2655G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2655G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5207G>A
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21082
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val243Val
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/15-58001534-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001534
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001534
    reference: chr 15
allele count: 1
allele frequency: 8.348639171814994e-6
allele num: 119780
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*809C>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5200C>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1927C>A
  hgvsp: ENSP00000465231.1:p.Leu643Met
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.265C>A
  hgvsp: ENSP00000369930.4:p.Leu89Met
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.518C>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.736C>A
  hgvsp: ENSP00000369937.2:p.Leu246Met
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2648C>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2648C>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.736C>A
  hgvsp: ENSP00000299638.3:p.Leu246Met
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1400C>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.736C>A
  hgvsp: ENSP00000432615.1:p.Leu246Met
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2648C>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2648C>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2648C>A
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8425
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu246Met
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

15-58001537-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001537
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001537
    reference: chr 15
allele count: 3
allele frequency: 2.509620210808098e-5
allele num: 119540
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.739C>T
  hgvsp: ENSP00000299638.3:p.Arg247Cys
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.739C>T
  hgvsp: ENSP00000432615.1:p.Arg247Cys
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.268C>T
  hgvsp: ENSP00000369930.4:p.Arg90Cys
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2645C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*812C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.739C>T
  hgvsp: ENSP00000369937.2:p.Arg247Cys
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.521C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1930C>T
  hgvsp: ENSP00000465231.1:p.Arg644Cys
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2645C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5197C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2645C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2645C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1403C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2645C>T
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8331
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg247Cys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

15-58001538-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001538
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001538
    reference: chr 15
allele count: 3
allele frequency: 2.510670348983178e-5
allele num: 119490
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*813G>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2644G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.740G>A
  hgvsp: ENSP00000299638.3:p.Arg247His
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.740G>A
  hgvsp: ENSP00000432615.1:p.Arg247His
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1404G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.740G>A
  hgvsp: ENSP00000369937.2:p.Arg247His
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2644G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2644G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2644G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5196G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1931G>A
  hgvsp: ENSP00000465231.1:p.Arg644His
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.522G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2644G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.269G>A
  hgvsp: ENSP00000369930.4:p.Arg90His
  variant of: http://identifiers.org/hgnc/14862
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg247His
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

15-58001553-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001553
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001553
    reference: chr 15
allele count: 11
allele frequency: 9.306103111622477e-5
allele num: 118202
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*828A>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2629A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1946A>G
  hgvsp: ENSP00000465231.1:p.Asn649Ser
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2629A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.755A>G
  hgvsp: ENSP00000299638.3:p.Asn252Ser
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.755A>G
  hgvsp: ENSP00000432615.1:p.Asn252Ser
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2629A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.537A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.755A>G
  hgvsp: ENSP00000369937.2:p.Asn252Ser
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.284A>G
  hgvsp: ENSP00000369930.4:p.Asn95Ser
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2629A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1419A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2629A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5181A>G
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8091
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Asn252Ser
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

15-58001555-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001555
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001555
    reference: chr 15
allele count: 4
allele frequency: 3.388165139168883e-5
allele num: 118058
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.757G>A
  hgvsp: ENSP00000432615.1:p.Val253Met
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*830G>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2627G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.757G>A
  hgvsp: ENSP00000369937.2:p.Val253Met
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2627G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.539G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.757G>A
  hgvsp: ENSP00000299638.3:p.Val253Met
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5179G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1948G>A
  hgvsp: ENSP00000465231.1:p.Val650Met
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2627G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.286G>A
  hgvsp: ENSP00000369930.4:p.Val96Met
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1421G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2627G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2627G>A
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19627
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21961
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val253Met
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD

15-58001560-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001560
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001560
    reference: chr 15
allele count: 1
allele frequency: 8.522969402539845e-6
allele num: 117330
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1422+4A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5174A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.287+4A>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2622A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1949+4A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2622A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2622A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.758+4A>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*831+4A>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.758+4A>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.758+4A>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2622A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2622A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.540+4A>G
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19161
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.758+4A>G
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

15-58001568-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001568
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001568
    reference: chr 15
allele count: 39
allele frequency: 3.357438016528926e-4
allele num: 116160
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2614C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5166C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.287+12C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2614C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.758+12C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.758+12C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2614C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2614C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2614C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.758+12C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1422+12C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1949+12C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.540+12C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*831+12C>T
  variant of: http://identifiers.org/hgnc/14862
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7918
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21147
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

15-58001574-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001574
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001574
    reference: chr 15
allele count: 1
allele frequency: 8.653363562416712e-6
allele num: 115562
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2608C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2608C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1422+18C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.758+18C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*831+18C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1949+18C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.287+18C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2608C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.758+18C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5160C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.758+18C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.540+18C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2608C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2608C>T
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 20684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS

15-58001578-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001578
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001578
    reference: chr 15
allele count: 1
allele frequency: 8.701402666109778e-6
allele num: 114924
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.287+22C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1949+22C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2604C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.540+22C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2604C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2604C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.758+22C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*831+22C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5156C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2604C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1422+22C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2604C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.758+22C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.758+22C>T
  variant of: http://identifiers.org/hgnc/14862
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

15-58001580-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001580
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001580
    reference: chr 15
allele count: 1
allele frequency: 8.71064964025017e-6
allele num: 114802
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.540+24T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2602T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1422+24T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.758+24T>C
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1949+24T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.758+24T>C
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2602T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.287+24T>C
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2602T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2602T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*831+24T>C
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.758+24T>C
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5154T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2602T>C
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

15-58001580-T-TCG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001580
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001582
    reference: chr 15
allele count: 3
allele frequency: 2.613194892075051e-5
allele num: 114802
alternate allele: TCG
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.758+24_758+25insCG
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2602_*33-2601insCG
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5154_1305-5153insCG
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2602_1120-2601insCG
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.540+24_540+25insCG
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2602_1305-2601insCG
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2602_*911-2601insCG
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.758+24_758+25insCG
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1949+24_1949+25insCG
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2602_1204-2601insCG
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*831+24_*831+25insCG
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1422+24_*1422+25insCG
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.287+24_287+25insCG
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.758+24_758+25insCG
  variant of: http://identifiers.org/hgnc/14862
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7847
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

15-58001582-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001582
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001582
    reference: chr 15
allele count: 3
allele frequency: 2.62384550797649e-5
allele num: 114336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*831+26T>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2600T>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2600T>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5152T>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1949+26T>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.758+26T>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.287+26T>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.540+26T>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2600T>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.758+26T>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.758+26T>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2600T>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1422+26T>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2600T>A
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7814
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP

15-58001590-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001590
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001590
    reference: chr 15
allele count: 4
allele frequency: 3.540763034433921e-5
allele num: 112970
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2592A>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1949+34A>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2592A>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2592A>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2592A>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.287+34A>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5144A>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1422+34A>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.758+34A>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.758+34A>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.540+34A>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.758+34A>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*831+34A>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2592A>T
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ

15-58001591-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001591
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001591
    reference: chr 15
allele count: 9
allele frequency: 7.992611274910306e-5
allele num: 112604
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1422+35C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5143C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2591C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1949+35C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.287+35C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.758+35C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*831+35C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.540+35C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.758+35C>T
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2591C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2591C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2591C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2591C>T
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.758+35C>T
  variant of: http://identifiers.org/hgnc/14862
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16824
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

15-58001592-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001592
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001592
    reference: chr 15
allele count: 4
allele frequency: 3.564172933670741e-5
allele num: 112228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*831+36G>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.758+36G>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1949+36G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.758+36G>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2590G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2590G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.758+36G>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2590G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2590G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2590G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.540+36G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.287+36G>A
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1422+36G>A
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5142G>A
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7613
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3607
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16572
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

15-58001595-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001595
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001595
    reference: chr 15
allele count: 1
allele frequency: 8.949186518945427e-6
allele num: 111742
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.287+39A>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.758+39A>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5139A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*831+39A>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1949+39A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1422+39A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.758+39A>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2587A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2587A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2587A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2587A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2587A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.758+39A>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.540+39A>G
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7506
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

15-58001598-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58001598
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58001598
    reference: chr 15
allele count: 29
allele frequency: 2.606600992306033e-4
allele num: 111256
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-2584T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.287+42T>C
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-2584T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.758+42T>C
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1422+42T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1949+42T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.758+42T>C
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-2584T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.540+42T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-5136T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-2584T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*831+42T>C
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-2584T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.758+42T>C
  variant of: http://identifiers.org/hgnc/14862
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18123
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7418
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

15-58004138-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58004138
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58004138
    reference: chr 15
allele count: 2
allele frequency: 1.855769587647998e-5
allele num: 107772
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-44A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-44A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1950-44A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*832-44A>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-2596A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.759-44A>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-44A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.288-44A>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.759-44A>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.759-44A>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-44A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.541-44A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-44A>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1423-44A>G
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15965
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11386
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6241
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: QD

15-58004140-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58004140
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58004140
    reference: chr 15
allele count: 5
allele frequency: 4.63701450458137e-5
allele num: 107828
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000465231
  ensembl transcript: ENST00000587652
  gene symbol: GCOM1
  hgvsc: ENST00000587652.1:c.1950-42T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435028
  ensembl transcript: ENST00000463717
  gene symbol: GCOM1
  hgvsc: ENST00000463717.1:c.*33-42T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369937
  ensembl transcript: ENST00000380563
  gene symbol: POLR2M
  hgvsc: ENST00000380563.2:c.759-42T>C
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.759-42T>C
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000435774
  ensembl transcript: ENST00000460962
  gene symbol: GCOM1
  hgvsc: ENST00000460962.1:c.*1423-42T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.759-42T>C
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000433988
  ensembl transcript: ENST00000494490
  gene symbol: POLR2M
  hgvsc: ENST00000494490.1:c.*832-42T>C
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369942
  ensembl transcript: ENST00000380568
  gene symbol: GCOM1
  hgvsc: ENST00000380568.3:c.1305-2594T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.288-42T>C
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436922
  ensembl transcript: ENST00000482814
  gene symbol: GCOM1
  hgvsc: ENST00000482814.1:c.1204-42T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.541-42T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-42T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000434505
  ensembl transcript: ENST00000477282
  gene symbol: GCOM1
  hgvsc: ENST00000477282.1:c.1120-42T>C
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000436614
  ensembl transcript: ENST00000496627
  gene symbol: GCOM1
  hgvsc: ENST00000496627.1:c.*911-42T>C
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6264
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15490
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18379
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

15-58004149-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 58004149
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 58004149
    reference: chr 15
allele count: 2
allele frequency: 1.841078135356064e-5
allele num: 108632
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000299638
  ensembl transcript: ENST00000299638
  gene symbol: POLR2M
  hgvsc: ENST00000299638.3:c.759-33C>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl protein: ENSP00000369943
  ensembl transcript: ENST00000380569
  gene symbol: GCOM1
  hgvsc: ENST00000380569.2:c.1305-33C>G
  variant of: http://identifiers.org/hgnc/26424
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000432615
  ensembl transcript: ENST00000482852
  gene symbol: POLR2M
  hgvsc: ENST00000482852.1:c.759-33C>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000255529
  ensembl protein: ENSP00000369930
  ensembl transcript: ENST00000380557
  gene symbol: POLR2M
  hgvsc: ENST00000380557.4:c.288-33C>G
  variant of: http://identifiers.org/hgnc/14862
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137878
  ensembl transcript: ENST00000484300
  gene symbol: GCOM1
  hgvsc: ENST00000484300.1:n.541-33C>G
  variant of: http://identifiers.org/hgnc/26424
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 1284
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 352
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24248
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20662
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 242
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 515
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 71
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 748
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2728
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 171
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2987
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3199
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8098
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 48
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 137
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 38356
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3732
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2030
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
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East Asian
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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FS
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QD
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InbreedingCoeff
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DP
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MQ
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ClippingRankSum
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MQRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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African
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East Asian
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Other
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 7.500525036752572e-5
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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MQ
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DP
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QD
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Non-Finnish)
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allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

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

MQ
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SIO_000300: 5.806e1

QD
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQRankSum
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SIO_000300: 9.24e-1

DP
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FS
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ClippingRankSum
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SIO_000300: -1.331e0

InbreedingCoeff
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SIO_000300: 3.1e-3

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

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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num of homozygotes: 0

European (Non-Finnish)
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allele num: 66714
num of homozygotes: 0

South Asian
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Other
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BaseQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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ClippingRankSum
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DP
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QD
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SIO_000300: 9.01e0

ReadPosRankSum
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SIO_000300: 5.97e-1

FS
type: SiteQuality
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MQRankSum
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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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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allele frequency: 0.0e0
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African
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66718
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MQRankSum
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FS
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BaseQRankSum
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ClippingRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
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Other
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Latino
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allele frequency: 0.0e0
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East Asian
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allele num: 8654
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

African
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ClippingRankSum
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SIO_000300: -5.55e-1

MQ
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ReadPosRankSum
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FS
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VQSLOD
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-4

DP
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SIO_000300: 1.71787e6

QD
type: SiteQuality
SIO_000300: 1.31e1

GenotypeDepth
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variant carriers: 11

GenotypeDepth
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variant carriers: 10

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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

European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 6.439830834294502e-3
allele num: 10404
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South Asian
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allele num: 16508
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East Asian
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European (Non-Finnish)
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allele frequency: 4.646700842401895e-4
allele num: 66714
num of homozygotes: 0

Latino
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allele frequency: 3.457216940363008e-4
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VQSLOD
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QD
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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FS
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 6
allele frequency: 8.993344924755681e-5
allele num: 66716
num of homozygotes: 0

MQRankSum
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FS
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VQSLOD
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BaseQRankSum
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QD
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ClippingRankSum
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InbreedingCoeff
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

European (Finnish)
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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African
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South Asian
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allele frequency: 0.0e0
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Other
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MQ
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SIO_000300: 5.014e1

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 66714
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

Latino
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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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South Asian
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allele count: 0
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InbreedingCoeff
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SIO_000300: -2.0e-4

MQRankSum
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MQ
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SIO_000300: 5.645e1

BaseQRankSum
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SIO_000300: -1.542e0

ReadPosRankSum
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SIO_000300: -9.07e-1

ClippingRankSum
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SIO_000300: 7.7e-2

FS
type: SiteQuality
SIO_000300: 8.93e-1

VQSLOD
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SIO_000300: -1.915e0

DP
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SIO_000300: 1.718633e6

QD
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GenotypeDepth
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variant carriers: 8

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 112
allele frequency: 1.080246913580247e-2
allele num: 10368
num of homozygotes: 0

Other
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allele count: 1
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allele num: 906
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East Asian
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allele count: 0
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num of homozygotes: 0

Latino
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allele count: 4
allele frequency: 3.456022118541559e-4
allele num: 11574
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
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European (Finnish)
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allele count: 3
allele frequency: 4.535833081342606e-4
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.998141152485459e-5
allele num: 66708
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ClippingRankSum
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FS
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SIO_000300: 5.22e-1

ReadPosRankSum
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DP
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VQSLOD
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InbreedingCoeff
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QD
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MQ
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MQRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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European (Non-Finnish)
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allele count: 4
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allele num: 66708
num of homozygotes: 0

African
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European (Finnish)
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South Asian
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Latino
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East Asian
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Other
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ClippingRankSum
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QD
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InbreedingCoeff
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VQSLOD
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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FS
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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 (Non-Finnish)
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African
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European (Finnish)
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Latino
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East Asian
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South Asian
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Other
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InbreedingCoeff
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VQSLOD
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QD
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ClippingRankSum
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MQRankSum
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DP
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MQ
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ReadPosRankSum
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FS
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 5.783021050196623e-4
allele num: 8646
num of homozygotes: 0

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

Other
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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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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.497751124437781e-5
allele num: 66700
num of homozygotes: 0

QD
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MQRankSum
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VQSLOD
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MQ
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BaseQRankSum
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SIO_000300: -2.98e-1

ClippingRankSum
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SIO_000300: -1.031e0

DP
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SIO_000300: 1.718158e6

InbreedingCoeff
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SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 5.22e-1

ReadPosRankSum
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SIO_000300: 1.29e0

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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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

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: 1.272110491882723e-3
allele num: 16508
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European (Finnish)
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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 frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

Latino
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ReadPosRankSum
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SIO_000300: 7.85e-1

FS
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MQRankSum
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QD
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BaseQRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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SIO_000300: 5.81e-2

VQSLOD
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10354
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 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
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num of homozygotes: 0

East Asian
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allele num: 8644
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Other
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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
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num of homozygotes: 0

BaseQRankSum
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SIO_000300: -4.222e0

ReadPosRankSum
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SIO_000300: 5.25e-1

MQ
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SIO_000300: 5.516e1

InbreedingCoeff
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SIO_000300: -4.0e-4

ClippingRankSum
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SIO_000300: -4.41e-1

VQSLOD
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SIO_000300: -8.052e-1

FS
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QD
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SIO_000300: 1.974e1

DP
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SIO_000300: 1.718119e6

MQRankSum
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SIO_000300: 2.73e-1

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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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
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
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allele num: 66692
num of homozygotes: 0

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

African
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allele count: 10
allele frequency: 9.659969088098918e-4
allele num: 10352
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Other
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South Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 1.728309713100588e-4
allele num: 11572
num of homozygotes: 0

ClippingRankSum
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SIO_000300: -4.65e-1

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

European (Non-Finnish)
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allele count: 4
allele frequency: 5.999160117583539e-5
allele num: 66676
num of homozygotes: 0

South Asian
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num of homozygotes: 0

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

Latino
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allele frequency: 8.644536652835408e-5
allele num: 11568
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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10356
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

BaseQRankSum
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SIO_000300: -1.619e0

InbreedingCoeff
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SIO_000300: 2.0e-4

DP
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SIO_000300: 1.719618e6

VQSLOD
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MQRankSum
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SIO_000300: 5.07e-1

ReadPosRankSum
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SIO_000300: 3.12e-1

MQ
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SIO_000300: 5.901e1

ClippingRankSum
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SIO_000300: -4.9e-1

FS
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SIO_000300: 5.25e-1

QD
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66656
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.659969088098918e-5
allele num: 10352
num of homozygotes: 0

European (Finnish)
type: Population
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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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FS
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SIO_000300: 8.426e0

VQSLOD
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SIO_000300: -1.732e0

MQRankSum
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SIO_000300: 2.14e-1

MQ
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SIO_000300: 5.869e1

InbreedingCoeff
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SIO_000300: -2.0e-4

ClippingRankSum
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SIO_000300: -1.265e0

ReadPosRankSum
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SIO_000300: 1.19e0

BaseQRankSum
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SIO_000300: -8.76e-1

QD
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SIO_000300: 8.42e0

DP
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SIO_000300: 1.719449e6

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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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: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.04e-1

FS
type: SiteQuality
SIO_000300: 5.610000000000001e-1

VQSLOD
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SIO_000300: -1.696e0

QD
type: SiteQuality
SIO_000300: 1.518e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e-1

MQ
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SIO_000300: 5.84e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.36e0

DP
type: SiteQuality
SIO_000300: 1.719402e6

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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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: 6614
num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 2.313208420078649e-4
allele num: 8646
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501231009427731e-5
allele num: 66612
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: 1.0e-4

BaseQRankSum
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQ
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VQSLOD
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FS
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DP
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QD
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

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: 1
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allele num: 66612
num of homozygotes: 0

African
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allele num: 10350
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European (Finnish)
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num of homozygotes: 0

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

European (Finnish)
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allele count: 0
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Latino
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East Asian
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Other
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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BaseQRankSum
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MQ
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FS
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ClippingRankSum
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VQSLOD
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MQRankSum
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QD
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InbreedingCoeff
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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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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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allele frequency: 0.0e0
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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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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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QD
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ClippingRankSum
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VQSLOD
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FS
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ReadPosRankSum
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DP
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MQ
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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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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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.507431637975218e-5
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ReadPosRankSum
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InbreedingCoeff
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MQ
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FS
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DP
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MQRankSum
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ClippingRankSum
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VQSLOD
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QD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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South Asian
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allele frequency: 0.0e0
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African
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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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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66240
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MQ
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VQSLOD
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DP
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ClippingRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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East Asian
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num of homozygotes: 0

Other
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South Asian
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European (Finnish)
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African
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Latino
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 27
allele frequency: 4.076086956521739e-4
allele num: 66240
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QD
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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DP
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FS
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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East Asian
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South Asian
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Other
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European (Finnish)
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European (Non-Finnish)
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MQ
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BaseQRankSum
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ReadPosRankSum
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DP
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MQRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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QD
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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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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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European (Finnish)
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Other
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European (Non-Finnish)
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allele num: 66014
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Latino
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South Asian
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East Asian
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African
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FS
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ClippingRankSum
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BaseQRankSum
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DP
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QD
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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MQ
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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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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: 6614
num of homozygotes: 0

South Asian
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allele frequency: 6.464959917248513e-5
allele num: 15468
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.697439875872769e-5
allele num: 10312
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.515105602860519e-5
allele num: 66002
num of homozygotes: 0

Other
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East Asian
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allele frequency: 0.0e0
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MQ
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SIO_000300: 5.973e1

VQSLOD
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DP
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FS
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BaseQRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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: 10274
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 count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 10
allele frequency: 1.523925632429137e-4
allele num: 65620
num of homozygotes: 0

Latino
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allele frequency: 8.668515950069348e-5
allele num: 11536
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8628
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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DP
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ReadPosRankSum
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SIO_000300: 3.19e-1

MQRankSum
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SIO_000300: -2.37e-1

FS
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MQ
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2
allele frequency: 3.049524274213223e-5
allele num: 65584
num of homozygotes: 0

Latino
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allele count: 0
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num of homozygotes: 0

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

East Asian
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allele count: 0
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South Asian
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InbreedingCoeff
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DP
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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FS
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BaseQRankSum
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SIO_000300: -2.163e0

QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
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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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.530643482520051e-5
allele num: 65332
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European (Finnish)
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South Asian
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African
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InbreedingCoeff
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QD
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ReadPosRankSum
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ClippingRankSum
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MQ
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BaseQRankSum
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MQRankSum
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FS
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DP
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VQSLOD
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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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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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num of homozygotes: 0

Latino
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South Asian
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Other
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European (Non-Finnish)
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allele num: 64992
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African
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allele frequency: 3.04758159653952e-3
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DP
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InbreedingCoeff
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QD
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MQ
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQRankSum
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FS
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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Latino
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Other
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South Asian
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East Asian
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European (Non-Finnish)
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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QD
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DP
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MQ
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ClippingRankSum
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.545165178157545e-5
allele num: 64718
num of homozygotes: 0

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

South Asian
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Other
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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FS
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DP
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MQRankSum
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

Latino
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allele frequency: 8.70170553428472e-5
allele num: 11492
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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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num of homozygotes: 0

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

European (Non-Finnish)
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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

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

South Asian
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allele frequency: 2.398081534772182e-4
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MQ
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FS
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MQRankSum
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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QD
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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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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
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num of homozygotes: 0

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

South Asian
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allele count: 3
allele frequency: 2.45378701128742e-4
allele num: 12226
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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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ReadPosRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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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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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

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

South Asian
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African
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East Asian
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European (Non-Finnish)
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BaseQRankSum
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DP
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ReadPosRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQRankSum
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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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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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East Asian
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allele frequency: 1.056834194457492e-3
allele num: 8516
num of homozygotes: 0

Latino
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African
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Other
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FS
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QD
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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MQRankSum
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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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African
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European (Finnish)
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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: 2
allele frequency: 3.123145632280834e-5
allele num: 64038
num of homozygotes: 0

South Asian
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allele frequency: 9.19793966151582e-5
allele num: 10872
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11464
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

MQ
type: SiteQuality
SIO_000300: 5.899e1

InbreedingCoeff
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BaseQRankSum
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QD
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MQRankSum
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SIO_000300: -3.61e-1

FS
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VQSLOD
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ClippingRankSum
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SIO_000300: -3.61e-1

DP
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SIO_000300: 1.558168e6

ReadPosRankSum
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SIO_000300: 5.27e-1

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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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.008064516129032e-4
allele num: 9920
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63920
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10540
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 810
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East Asian
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: -8.493000000000001e-1

MQ
type: SiteQuality
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QD
type: SiteQuality
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DP
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FS
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: -1.0e-3

MQRankSum
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SIO_000300: -1.342e0

ReadPosRankSum
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SIO_000300: 7.64e-1

BaseQRankSum
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SIO_000300: 2.13e0

GenotypeDepth
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variant carriers: 3

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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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9866
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 4.233301975540922e-4
allele num: 63780
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.74737578726382e-5
allele num: 11432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.513775355737209e-4
allele num: 6606
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: 3.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e-1

FS
type: SiteQuality
SIO_000300: 7.09e-1

BaseQRankSum
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SIO_000300: 2.72e0

QD
type: SiteQuality
SIO_000300: 1.453e1

MQ
type: SiteQuality
SIO_000300: 5.886e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.539732e6

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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variant carriers: 0

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

Other
type: Population
allele count: 0
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allele num: 802
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.684919966301601e-5
allele num: 59350
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
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Latino
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allele count: 1
allele frequency: 9.867771857114664e-5
allele num: 10134
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MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.94e-1

ReadPosRankSum
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 5.647e1

DP
type: SiteQuality
SIO_000300: 1.218497e6

BaseQRankSum
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SIO_000300: 2.41e0

QD
type: SiteQuality
SIO_000300: 1.556e1

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