2-75897442-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75897442
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75897442
    reference: chr 2
allele count: 1
allele frequency: 8.398280032249395e-6
allele num: 119072
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*17+15014T>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1843-32A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1957-32A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271452
  ensembl transcript: ENST00000604219
  gene symbol: RP11-342K6.2
  hgvsc: ENST00000604219.1:n.328T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1747-32A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-9459T>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1076-32A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1299-32A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000475090
  ensembl transcript: ENST00000492255
  gene symbol: MRPL19
  hgvsc: ENST00000492255.1:c.131-263T>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000387284
  ensembl transcript: ENST00000409374
  gene symbol: MRPL19
  hgvsc: ENST00000409374.1:c.*18-263T>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.211-32A>G
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6386
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

2-75897445-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75897445
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75897445
    reference: chr 2
allele count: 9
allele frequency: 7.572315614114796e-5
allele num: 118854
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-9456C>T
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271452
  ensembl transcript: ENST00000604219
  gene symbol: RP11-342K6.2
  hgvsc: ENST00000604219.1:n.331C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*17+15017C>T
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.211-35G>A
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1747-35G>A
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1843-35G>A
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000475090
  ensembl transcript: ENST00000492255
  gene symbol: MRPL19
  hgvsc: ENST00000492255.1:c.131-260C>T
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1076-35G>A
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1957-35G>A
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000387284
  ensembl transcript: ENST00000409374
  gene symbol: MRPL19
  hgvsc: ENST00000409374.1:c.*18-260C>T
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1299-35G>A
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6369
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12890
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS

2-75897451-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75897451
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75897451
    reference: chr 2
allele count: 14
allele frequency: 1.180338925891577e-4
allele num: 118610
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-9450A>G
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1299-41T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.211-41T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1957-41T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271452
  ensembl transcript: ENST00000604219
  gene symbol: RP11-342K6.2
  hgvsc: ENST00000604219.1:n.337A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000475090
  ensembl transcript: ENST00000492255
  gene symbol: MRPL19
  hgvsc: ENST00000492255.1:c.131-254A>G
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*17+15023A>G
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000387284
  ensembl transcript: ENST00000409374
  gene symbol: MRPL19
  hgvsc: ENST00000409374.1:c.*18-254A>G
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1843-41T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1747-41T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1076-41T>C
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3446
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12260
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24057
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6368
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6206
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

2-75897452-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75897452
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75897452
    reference: chr 2
allele count: 1
allele frequency: 8.437679300685139e-6
allele num: 118516
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-9449G>A
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271452
  ensembl transcript: ENST00000604219
  gene symbol: RP11-342K6.2
  hgvsc: ENST00000604219.1:n.338G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*17+15024G>A
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1747-42C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1299-42C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1957-42C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000475090
  ensembl transcript: ENST00000492255
  gene symbol: MRPL19
  hgvsc: ENST00000492255.1:c.131-253G>A
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1843-42C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000387284
  ensembl transcript: ENST00000409374
  gene symbol: MRPL19
  hgvsc: ENST00000409374.1:c.*18-253G>A
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.211-42C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1076-42C>T
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6591
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6188
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1357
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-75897454-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75897454
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75897455
    reference: chr 2
allele count: 25
allele frequency: 2.110773387369132e-4
allele num: 118440
alternate allele: GA
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000271452
  ensembl transcript: ENST00000604219
  gene symbol: RP11-342K6.2
  hgvsc: ENST00000604219.1:n.343dupA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*17+15029dupA
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-9444dupA
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1843-45dupT
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000475090
  ensembl transcript: ENST00000492255
  gene symbol: MRPL19
  hgvsc: ENST00000492255.1:c.131-248dupA
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000387284
  ensembl transcript: ENST00000409374
  gene symbol: MRPL19
  hgvsc: ENST00000409374.1:c.*18-248dupA
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.211-45dupT
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1299-45dupT
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1957-45dupT
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1076-45dupT
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1747-45dupT
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24407
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6177
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11910
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6429
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3332
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

2-75897706-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75897706
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75897706
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 36
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000475090
  ensembl transcript: ENST00000492255
  gene symbol: MRPL19
  hgvsc: ENST00000492255.1:c.132C>T
  hgvsp: ENSP00000475090.1:p.Pro45Leu
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.211-296G>A
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1299-296G>A
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1843-296G>A
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1957-296G>A
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1747-296G>A
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1076-296G>A
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*17+15278C>T
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000387284
  ensembl transcript: ENST00000409374
  gene symbol: MRPL19
  hgvsc: ENST00000409374.1:c.*19C>T
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-9195C>T
  variant of: http://identifiers.org/hgnc/14052
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro45Leu
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP

2-75899025-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75899025
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75899025
    reference: chr 2
allele count: 1
allele frequency: 8.301786544464368e-6
allele num: 120456
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*17+16597A>G
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.210+51T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1956+51T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1842+51T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1746+51T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1298+51T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1075+51T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-7876A>G
  variant of: http://identifiers.org/hgnc/14052
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10622
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3823
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2858
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22060
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1333
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/2-75899028-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75899028
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75899028
    reference: chr 2
allele count: 143
allele frequency: 1.187510380335492e-3
allele num: 120420
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-7873C>A
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*17+16600C>A
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1298+48G>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1075+48G>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1842+48G>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1956+48G>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1746+48G>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.210+48G>T
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3735
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 4.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 17601
  bin: 2.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 11231
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10644
  bin: 3.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 5168
  bin: 3.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1781
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1449
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2793
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum

2-75899031-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75899031
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75899031
    reference: chr 2
allele count: 1
allele frequency: 8.296827293243064e-6
allele num: 120528
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1298+45C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*17+16603G>A
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1956+45C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.210+45C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1746+45C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1842+45C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-7870G>A
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1075+45C>T
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1688
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17761
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10706
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26066
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3678
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-75899033-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75899033
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75899033
    reference: chr 2
allele count: 1
allele frequency: 8.293386853323161e-6
allele num: 120578
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1842+43A>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.210+43A>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1075+43A>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1746+43A>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*17+16605T>G
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-7868T>G
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1956+43A>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1298+43A>C
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17888
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2933
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2786
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7363
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

2-75899045-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75899045
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75899045
    reference: chr 2
allele count: 10
allele frequency: 8.278556881964337e-5
allele num: 120794
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1298+31A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1842+31A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-7856T>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1956+31A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1746+31A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*17+16617T>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.210+31A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1075+31A>G
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

2-75899055-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75899055
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75899055
    reference: chr 2
allele count: 1
allele frequency: 8.262141216517673e-6
allele num: 121034
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1746+21T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1298+21T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*17+16627A>G
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-7846A>G
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.210+21T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1075+21T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1842+21T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1956+21T>C
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: A
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

2-75899081-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75899081
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75899081
    reference: chr 2
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1951C>G
  hgvsp: ENSP00000318690.3:p.Leu651Val
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*17+16653G>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.205C>G
  hgvsp: ENSP00000409340.1:p.Leu69Val
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1837C>G
  hgvsp: ENSP00000386552.3:p.Leu613Val
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1293C>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1070C>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1741C>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-7820G>C
  variant of: http://identifiers.org/hgnc/14052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10882
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31202
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9673
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3644
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu651Val
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-75899098-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75899098
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75899098
    reference: chr 2
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.188G>A
  hgvsp: ENSP00000409340.1:p.Arg63Lys
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1724G>A
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1934G>A
  hgvsp: ENSP00000318690.3:p.Arg645Lys
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*17+16670C>T
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1276G>A
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1820G>A
  hgvsp: ENSP00000386552.3:p.Arg607Lys
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-7803C>T
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1053G>A
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5169
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3643
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31233
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg645Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-75899101-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75899101
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75899101
    reference: chr 2
allele count: 261
allele frequency: 2.151725502481492e-3
allele num: 121298
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.185A>G
  hgvsp: ENSP00000409340.1:p.Glu62Gly
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1050A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1721A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-7800T>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1817A>G
  hgvsp: ENSP00000386552.3:p.Glu606Gly
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1931A>G
  hgvsp: ENSP00000318690.3:p.Glu644Gly
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*17+16673T>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1273A>G
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 9.75e1
  variant carriers: 173
genotype depth: GenotypeDepth
  all individuals: 10835
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9773
  bin: 9.75e1
  variant carriers: 259
genotype quality: GenotypeQuality
  all individuals: 1861
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu644Gly
num of homozygotes: 2
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/2-75899108-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75899108
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75899108
    reference: chr 2
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1924T>G
  hgvsp: ENSP00000318690.3:p.Phe642Val
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1810T>G
  hgvsp: ENSP00000386552.3:p.Phe604Val
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*17+16680A>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-7793A>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.178T>G
  hgvsp: ENSP00000409340.1:p.Phe60Val
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1714T>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1043T>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1266T>G
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2592
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Phe642Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum

2-75899120-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75899120
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75899120
    reference: chr 2
allele count: 2
allele frequency: 1.649620587264929e-5
allele num: 121240
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1912C>A
  hgvsp: ENSP00000318690.3:p.Pro638Thr
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1031C>A
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1254C>A
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.166C>A
  hgvsp: ENSP00000409340.1:p.Pro56Thr
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-7781G>T
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1702C>A
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1798C>A
  hgvsp: ENSP00000386552.3:p.Pro600Thr
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*17+16692G>T
  variant of: http://identifiers.org/hgnc/14052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2747
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31181
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2589
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro638Thr
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

2-75899138-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75899138
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75899138
    reference: chr 2
allele count: 1
allele frequency: 8.263233568560049e-6
allele num: 121018
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1013G>A
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*17+16710C>T
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1684G>A
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-7763C>T
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1780G>A
  hgvsp: ENSP00000386552.3:p.Val594Ile
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1236G>A
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.148G>A
  hgvsp: ENSP00000409340.1:p.Val50Ile
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1894G>A
  hgvsp: ENSP00000318690.3:p.Val632Ile
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7509
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3633
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val632Ile
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD

2-75899148-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75899148
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75899148
    reference: chr 2
allele count: 4
allele frequency: 3.311916274756574e-5
allele num: 120776
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1890-6A>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1232-6A>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*17+16720T>G
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1009-6A>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1680-6A>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.144-6A>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-7753T>G
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1776-6A>C
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19071
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30227
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
hgvs: c.1890-6A>C
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

2-75899148-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75899148
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75899149
    reference: chr 2
allele count: 1
allele frequency: 8.279790686891435e-6
allele num: 120776
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1232-7dupT
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1890-7dupT
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*17+16721dupA
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-7752dupA
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1776-7dupT
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1009-7dupT
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.144-7dupT
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1680-7dupT
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1890-7dupT
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum

2-75899150-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75899150
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75899150
    reference: chr 2
allele count: 1
allele frequency: 8.291873963515755e-6
allele num: 120600
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*17+16722G>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-7751G>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1680-8C>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.144-8C>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1009-8C>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1890-8C>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1232-8C>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1776-8C>G
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29225
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3618
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2546
  bin: 7.25e1
  variant carriers: 0
hgvs: c.1890-8C>G
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

2-75899158-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75899158
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75899158
    reference: chr 2
allele count: 8
allele frequency: 6.643525054393862e-5
allele num: 120418
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.144-16G>A
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1680-16G>A
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1232-16G>A
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*17+16730C>T
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1009-16G>A
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1890-16G>A
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-7743C>T
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1776-16G>A
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10858
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12844
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2525
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1874
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3601
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

2-75899158-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75899158
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75899157
    reference: chr 2
allele count: 5
allele frequency: 4.152203158996163e-5
allele num: 120418
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1009-17delC
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*17+16731delG
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1680-17delC
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1232-17delC
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1776-17delC
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-7742delG
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1890-17delC
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.144-17delC
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12844
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18712
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10858
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2734
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7220
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: CG
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-75899159-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75899159
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75899159
    reference: chr 2
allele count: 1
allele frequency: 8.311999202048076e-6
allele num: 120308
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1890-17C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-7742G>A
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.144-17C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1009-17C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1232-17C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1776-17C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*17+16731G>A
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1680-17C>T
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5156
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10829
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2725
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27786
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

2-75899160-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75899160
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75899160
    reference: chr 2
allele count: 1
allele frequency: 8.310203267571925e-6
allele num: 120334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1776-18T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1890-18T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1680-18T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*17+16732A>G
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1009-18T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-7741A>G
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.144-18T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1232-18T>C
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5157
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27984
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7186
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1874
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-75899160-AAAGAGAAGAGAAAATGCAAAGAACTATTAGTCTTTCAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75899160
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75899122
    reference: chr 2
allele count: 3
allele frequency: 2.493060980271577e-5
allele num: 120334
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  variant of: http://identifiers.org/hgnc/14052
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 18607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5157
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2519
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9553
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: AAAGAGAAGAGAAAATGCAAAGAACTATTAGTCTTTCAG
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-75899161-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75899161
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75899161
    reference: chr 2
allele count: 1
allele frequency: 8.318360284820657e-6
allele num: 120216
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*17+16733A>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1680-19T>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1232-19T>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1009-19T>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-7740A>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.144-19T>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1776-19T>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1890-19T>G
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18380
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26821
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2508
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

2-75899167-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75899167
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75899167
    reference: chr 2
allele count: 43
allele frequency: 3.582198970326064e-4
allele num: 120038
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1776-25T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-7734A>G
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*17+16739A>G
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.144-25T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1890-25T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1680-25T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1232-25T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1009-25T>C
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10725
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17749
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10620
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5152
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2370
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9587
  bin: 9.75e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 25345
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2477
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

2-75899168-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75899168
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75899168
    reference: chr 2
allele count: 1
allele frequency: 8.335139280177371e-6
allele num: 119974
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*17+16740G>A
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1890-26C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1776-26C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1232-26C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1009-26C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1680-26C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-7733G>A
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.144-26C>T
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10450
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2901
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6833
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2473
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1868
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2706
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

2-75899170-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75899170
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75899171
    reference: chr 2
allele count: 2
allele frequency: 1.667834150572067e-5
allele num: 119916
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.144-29dupT
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*17+16746dupA
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1776-29dupT
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1009-29dupT
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1890-29dupT
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-7727dupA
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1680-29dupT
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1232-29dupT
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23927
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2626
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3546
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6704
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

2-75899174-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75899174
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75899174
    reference: chr 2
allele count: 1
allele frequency: 8.346827370916315e-6
allele num: 119806
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1776-32T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1890-32T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-7727A>G
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1232-32T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*17+16746A>G
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1680-32T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.144-32T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1009-32T>C
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4561
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21922
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2872
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD

2-75899179-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75899179
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75899179
    reference: chr 2
allele count: 1
allele frequency: 8.370302167908262e-6
allele num: 119470
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1890-37T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-7722A>G
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1680-37T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.144-37T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1776-37T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*17+16751A>G
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1009-37T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1232-37T>C
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4832
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7817
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5032
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5876
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2997
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3128
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2690
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD

2-75899181-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75899181
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75899181
    reference: chr 2
allele count: 1
allele frequency: 8.379981899239097e-6
allele num: 119332
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1890-39C>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1009-39C>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1776-39C>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1232-39C>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1680-39C>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*17+16753G>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.144-39C>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-7720G>C
  variant of: http://identifiers.org/hgnc/14052
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9492
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17577
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3019
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3446
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2683
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

2-75899186-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75899186
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75899186
    reference: chr 2
allele count: 1
allele frequency: 8.405904307185366e-6
allele num: 118964
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.144-44T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1232-44T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-7715A>G
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*17+16758A>G
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1776-44T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1009-44T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1680-44T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1890-44T>C
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9324
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4959
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12052
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4773
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2679
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3541
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3406
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5382
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-75899191-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75899191
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75899191
    reference: chr 2
allele count: 6
allele frequency: 5.070393969611439e-5
allele num: 118334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1009-49A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*17+16763T>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1890-49A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.144-49A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1776-49A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1680-49A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1232-49A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-7710T>C
  variant of: http://identifiers.org/hgnc/14052
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9243
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4701
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11798
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10826
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2605
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3355
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9544
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 4861
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9686
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3534
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP

2-75900520-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75900520
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75900520
    reference: chr 2
allele count: 3
allele frequency: 2.745995423340961e-5
allele num: 109250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-6381G>A
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1775+50C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1008+50C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*18-17240G>A
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1231+50C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.143+50C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1679+50C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1889+50C>T
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9675
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9094
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12094
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3846
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

2-75900532-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75900532
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75900532
    reference: chr 2
allele count: 1
allele frequency: 9.129251949095291e-6
allele num: 109538
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*18-17228C>G
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1231+38G>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1679+38G>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.143+38G>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1775+38G>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-6369C>G
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1008+38G>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1889+38G>C
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4627
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12725
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3523
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1915
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2183
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum

2-75900535-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75900535
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75900535
    reference: chr 2
allele count: 2
allele frequency: 1.822655609222637e-5
allele num: 109730
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1889+35G>A
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1008+35G>A
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.143+35G>A
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1231+35G>A
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*18-17225C>T
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1775+35G>A
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-6366C>T
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1679+35G>A
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7868
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12986
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5254
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32282
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3331
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2185
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2902
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-75900536-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75900536
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75900536
    reference: chr 2
allele count: 17
allele frequency: 1.54663561264966e-4
allele num: 109916
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*18-17224T>G
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1775+34A>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.143+34A>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-6365T>G
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1231+34A>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1008+34A>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1679+34A>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1889+34A>C
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5232
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5313
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13022
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3263
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19189
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7641
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2194
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3237
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4711
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33325
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

2-75900543-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75900543
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75900543
    reference: chr 2
allele count: 1
allele frequency: 9.057642839027572e-6
allele num: 110404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1008+27T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1775+27T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.143+27T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1889+27T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*18-17217A>G
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-6358A>G
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1679+27T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1231+27T>C
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1883
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4758
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

2-75900550-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75900550
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75900550
    reference: chr 2
allele count: 1
allele frequency: 9.003331232556045e-6
allele num: 111070
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1008+20A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.143+20A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1775+20A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-6351T>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1231+20A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1889+20A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*18-17210T>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1679+20A>G
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4901
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38551
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

2-75900552-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75900552
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75900552
    reference: chr 2
allele count: 1
allele frequency: 8.986663790934254e-6
allele num: 111276
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.143+18C>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-6349G>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*18-17208G>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1231+18C>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1775+18C>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1679+18C>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1889+18C>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1008+18C>G
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23981
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5588
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

2-75900555-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75900555
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75900555
    reference: chr 2
allele count: 15
allele frequency: 1.344278749641526e-4
allele num: 111584
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1889+15T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1008+15T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.143+15T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-6346A>G
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1231+15T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*18-17205A>G
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1679+15T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1775+15T>C
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24667
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14143
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5304
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4708
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4896
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39790
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5484
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 9.75e1
  variant carriers: 14
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

2-75900563-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75900563
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75900563
    reference: chr 2
allele count: 39
allele frequency: 3.468948463878462e-4
allele num: 112426
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1889+7G>A
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.143+7G>A
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1775+7G>A
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*18-17197C>T
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1008+7G>A
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1679+7G>A
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-6338C>T
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1231+7G>A
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5364
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 25928
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3020
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14487
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1889+7G>A
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

2-75900564-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75900564
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75900564
    reference: chr 2
allele count: 3
allele frequency: 2.664393051262922e-5
allele num: 112596
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.143+6C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*18-17196G>A
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1008+6C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1231+6C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1775+6C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1889+6C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1679+6C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-6337G>A
  variant of: http://identifiers.org/hgnc/14052
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5397
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5001
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2178
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4977
  bin: 6.75e1
  variant carriers: 0
hgvs: c.1889+6C>T
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

2-75900566-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75900566
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75900566
    reference: chr 2
allele count: 1
allele frequency: 8.857552835302662e-6
allele num: 112898
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*18-17194T>G
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1231+4A>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1889+4A>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1679+4A>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-6335T>G
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.143+4A>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1775+4A>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1008+4A>C
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5352
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1021
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 9.25e1
  variant carriers: 0
hgvs: c.1889+4A>C
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

2-75900572-CTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75900572
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75900570
    reference: chr 2
allele count: 1
allele frequency: 8.817409092512257e-6
allele num: 113412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1771_1772delAA
  hgvsp: ENSP00000386552.3:p.Lys591GlufsTer38
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1227_1228delAA
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*18-17186_*18-17185delTT
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.139_140delAA
  hgvsp: ENSP00000409340.1:p.Lys47GlufsTer38
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1675_*1676delAA
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1004_*1005delAA
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1885_1886delAA
  hgvsp: ENSP00000318690.3:p.Lys629GlufsTer38
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-6327_476-6326delTT
  variant of: http://identifiers.org/hgnc/14052
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14818
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys629GlufsTer38
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: CTT
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

2-75900575-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75900575
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75900575
    reference: chr 2
allele count: 1
allele frequency: 8.799408679736721e-6
allele num: 113644
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1003A>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.138A>C
  hgvsp: ENST00000427862.1:c.138A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1884A>C
  hgvsp: ENST00000321027.3:c.1884A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-6326T>G
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1770A>C
  hgvsp: ENST00000409857.3:c.1770A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1226A>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1674A>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*18-17185T>G
  variant of: http://identifiers.org/hgnc/14052
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro628Pro
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-75900578-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75900578
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75900578
    reference: chr 2
allele count: 6
allele frequency: 5.274261603375528e-5
allele num: 113760
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-6323A>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1767T>G
  hgvsp: ENSP00000386552.3:p.Tyr589Ter
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1881T>G
  hgvsp: ENSP00000318690.3:p.Tyr627Ter
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.135T>G
  hgvsp: ENSP00000409340.1:p.Tyr45Ter
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1223T>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1671T>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*18-17182A>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*1000T>G
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14988
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5048
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr627Ter
num of homozygotes: 1
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-75900585-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75900585
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75900585
    reference: chr 2
allele count: 1
allele frequency: 8.769314414999035e-6
allele num: 114034
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*18-17175G>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.128C>G
  hgvsp: ENSP00000409340.1:p.Pro43Arg
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1664C>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1216C>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1874C>G
  hgvsp: ENSP00000318690.3:p.Pro625Arg
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*993C>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1760C>G
  hgvsp: ENSP00000386552.3:p.Pro587Arg
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-6316G>C
  variant of: http://identifiers.org/hgnc/14052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5042
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4460
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro625Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum

2-75900594-ACAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75900594
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75900591
    reference: chr 2
allele count: 2
allele frequency: 1.755248192094362e-5
allele num: 113944
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.116_118delATG
  hgvsp: ENSP00000409340.1:p.Asp39del
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1204_1206delATG
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*18-17161_*18-17159delATC
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*981_*983delATG
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-6302_476-6300delATC
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1748_1750delATG
  hgvsp: ENSP00000386552.3:p.Asp583del
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1862_1864delATG
  hgvsp: ENSP00000318690.3:p.Asp621del
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1652_*1654delATG
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5375
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3619
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5062
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2168
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4746
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asp621del
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: ACAT
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD

2-75900595-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75900595
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75900595
    reference: chr 2
allele count: 7
allele frequency: 6.146713264607225e-5
allele num: 113882
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1750G>A
  hgvsp: ENSP00000386552.3:p.Val584Ile
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1206G>A
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1654G>A
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1864G>A
  hgvsp: ENSP00000318690.3:p.Val622Ile
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.118G>A
  hgvsp: ENSP00000409340.1:p.Val40Ile
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*983G>A
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*18-17165C>T
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-6306C>T
  variant of: http://identifiers.org/hgnc/14052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5394
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27170
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val622Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

2-75900599-ATCT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75900599
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75900596
    reference: chr 2
allele count: 2
allele frequency: 1.759633996128805e-5
allele num: 113660
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.111_113delAGA
  hgvsp: ENSP00000409340.1:p.Glu37del
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1647_*1649delAGA
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-6298_476-6296delTCT
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1857_1859delAGA
  hgvsp: ENSP00000318690.3:p.Glu619del
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*976_*978delAGA
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1743_1745delAGA
  hgvsp: ENSP00000386552.3:p.Glu581del
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1199_1201delAGA
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*18-17157_*18-17155delTCT
  variant of: http://identifiers.org/hgnc/14052
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3756
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu619del
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: ATCT
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-75900603-TCTA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75900603
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75900600
    reference: chr 2
allele count: 1
allele frequency: 8.821298142234612e-6
allele num: 113362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*972_*974delTAG
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1739_1741delTAG
  hgvsp: ENSP00000386552.3:p.Val580del
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1195_1197delTAG
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1853_1855delTAG
  hgvsp: ENSP00000318690.3:p.Val618del
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-6295_476-6293delACT
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.107_109delTAG
  hgvsp: ENSP00000409340.1:p.Val36del
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*18-17154_*18-17152delACT
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1643_*1645delTAG
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5373
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2277
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val618del
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: TCTA
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

2-75900605-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75900605
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75900605
    reference: chr 2
allele count: 1
allele frequency: 8.838763280241829e-6
allele num: 113138
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1644A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.108A>G
  hgvsp: ENST00000427862.1:c.108A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1740A>G
  hgvsp: ENST00000409857.3:c.1740A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1196A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*18-17155T>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-6296T>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1854A>G
  hgvsp: ENST00000321027.3:c.1854A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*973A>G
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2362
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42312
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val618Val
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum

2-75900608-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75900608
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75900608
    reference: chr 2
allele count: 9
allele frequency: 7.966575788691003e-5
allele num: 112972
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*970A>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1851A>T
  hgvsp: ENST00000321027.3:c.1851A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1737A>T
  hgvsp: ENST00000409857.3:c.1737A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*18-17152T>A
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1193A>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-6293T>A
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.105A>T
  hgvsp: ENST00000427862.1:c.105A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1641A>T
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5375
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4079
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2363
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala617Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/2-75900618-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75900618
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75900618
    reference: chr 2
allele count: 3
allele frequency: 2.686727565824825e-5
allele num: 111660
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*18-17142A>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-6283A>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1841T>G
  hgvsp: ENSP00000318690.3:p.Met614Arg
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1631T>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*960T>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1183T>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1727T>G
  hgvsp: ENSP00000386552.3:p.Met576Arg
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.95T>G
  hgvsp: ENSP00000409340.1:p.Met32Arg
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24263
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40920
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met614Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum

2-75900624-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75900624
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75900624
    reference: chr 2
allele count: 1
allele frequency: 9.074080795615405e-6
allele num: 110204
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1177C>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*18-17136G>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-6277G>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1625C>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1835C>G
  hgvsp: ENSP00000318690.3:p.Ser612Ter
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*954C>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1721C>G
  hgvsp: ENSP00000386552.3:p.Ser574Ter
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.89C>G
  hgvsp: ENSP00000409340.1:p.Ser30Ter
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4812
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser612Ter
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

2-75900626-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75900626
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75900626
    reference: chr 2
allele count: 1
allele frequency: 9.092892994835237e-6
allele num: 109976
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1623T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*952T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1175T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1719T>C
  hgvsp: ENST00000409857.3:c.1719T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.87T>C
  hgvsp: ENST00000427862.1:c.87T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1833T>C
  hgvsp: ENST00000321027.3:c.1833T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-6275A>G
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*18-17134A>G
  variant of: http://identifiers.org/hgnc/14052
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22559
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4818
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val611Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ

2-75900631-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75900631
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75900631
    reference: chr 2
allele count: 1
allele frequency: 9.227475731738825e-6
allele num: 108372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*18-17129T>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.82A>G
  hgvsp: ENSP00000409340.1:p.Ile28Val
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1828A>G
  hgvsp: ENSP00000318690.3:p.Ile610Val
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1714A>G
  hgvsp: ENSP00000386552.3:p.Ile572Val
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*947A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-6270T>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1618A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1170A>G
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6056
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36572
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4717
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile610Val
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ

2-75900633-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75900633
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75900633
    reference: chr 2
allele count: 1
allele frequency: 9.254631943287616e-6
allele num: 108054
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*945C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*18-17127G>A
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-6268G>A
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1712C>T
  hgvsp: ENSP00000386552.3:p.Ser571Phe
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1168C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1616C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1826C>T
  hgvsp: ENSP00000318690.3:p.Ser609Phe
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.80C>T
  hgvsp: ENSP00000409340.1:p.Ser27Phe
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4688
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2157
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser609Phe
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

2-75900635-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75900635
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75900635
    reference: chr 2
allele count: 1
allele frequency: 9.317927692881103e-6
allele num: 107320
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1824A>G
  hgvsp: ENST00000321027.3:c.1824A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1710A>G
  hgvsp: ENST00000409857.3:c.1710A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-6266T>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1614A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*18-17125T>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1166A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.78A>G
  hgvsp: ENST00000427862.1:c.78A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*943A>G
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7099
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12052
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys608Lys
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-75900638-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75900638
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75900638
    reference: chr 2
allele count: 1
allele frequency: 9.359264736162327e-6
allele num: 106846
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*18-17122A>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1707T>G
  hgvsp: ENST00000409857.3:c.1707T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.75T>G
  hgvsp: ENST00000427862.1:c.75T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-6263A>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1611T>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*940T>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1821T>G
  hgvsp: ENST00000321027.3:c.1821T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1163T>G
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6786
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7700
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4558
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu607Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-75900646-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75900646
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75900646
    reference: chr 2
allele count: 2
allele frequency: 1.91160727940052e-5
allele num: 104624
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1699G>T
  hgvsp: ENSP00000386552.3:p.Asp567Tyr
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-6255C>A
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*932G>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.67G>T
  hgvsp: ENSP00000409340.1:p.Asp23Tyr
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*18-17114C>A
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1155G>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1813G>T
  hgvsp: ENSP00000318690.3:p.Asp605Tyr
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1603G>T
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15869
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2159
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asp605Tyr
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

2-75900653-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75900653
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75900653
    reference: chr 2
allele count: 5
allele frequency: 4.84027105517909e-5
allele num: 103300
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1155-7A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*932-7A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-6248T>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1603-7A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1699-7A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1813-7A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*18-17107T>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.67-7A>G
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12413
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8031
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5034
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12171
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 18078
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
hgvs: c.1813-7A>G
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

2-75900658-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75900658
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75900658
    reference: chr 2
allele count: 40
allele frequency: 3.911444887741532e-4
allele num: 102264
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*18-17102A>G
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1813-12T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1603-12T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1699-12T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.67-12T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*932-12T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1155-12T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-6243A>G
  variant of: http://identifiers.org/hgnc/14052
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4931
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8339
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13875
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11988
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2334
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11650
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1284
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-75900672-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75900672
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75900672
    reference: chr 2
allele count: 1
allele frequency: 1.015145977991635e-5
allele num: 98508
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.67-26G>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1603-26G>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1155-26G>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1813-26G>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*932-26G>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*18-17088C>G
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1699-26G>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-6229C>G
  variant of: http://identifiers.org/hgnc/14052
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8751
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3193
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25572
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2140
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

2-75900674-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75900674
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75900674
    reference: chr 2
allele count: 1
allele frequency: 1.020533126505286e-5
allele num: 97988
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*18-17086G>A
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-6227G>A
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1603-28C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1699-28C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.67-28C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1813-28C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1155-28C>T
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*932-28C>T
  variant of: http://identifiers.org/hgnc/1317
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8873
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19955
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5860
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3161
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2419
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

2-75900681-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75900681
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75900681
    reference: chr 2
allele count: 1
allele frequency: 1.073283819173142e-5
allele num: 93172
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.67-35T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1813-35T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*18-17079A>G
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1155-35T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1603-35T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1699-35T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*932-35T>C
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-6220A>G
  variant of: http://identifiers.org/hgnc/14052
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8973
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19812
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3342
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3563
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

2-75900685-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75900685
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75900685
    reference: chr 2
allele count: 2
allele frequency: 2.305369204878161e-5
allele num: 86754
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1603-39A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000318690
  ensembl transcript: ENST00000321027
  gene symbol: GCFC2
  hgvsc: ENST00000321027.3:c.1813-39A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1155-39A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*18-17075T>C
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*932-39A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.67-39A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1699-39A>G
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-6216T>C
  variant of: http://identifiers.org/hgnc/14052
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3678
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10795
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3813
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1649
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24174
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6744
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

2-75900687-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75900687
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 75900686
    reference: chr 2
allele count: 254
allele frequency: 2.999952756649501e-3
allele num: 84668
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000386552
  ensembl transcript: ENST00000409857
  gene symbol: GCFC2
  hgvsc: ENST00000409857.3:c.1699-42delT
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000406267
  ensembl transcript: ENST00000453233
  gene symbol: MRPL19
  hgvsc: ENST00000453233.1:c.*18-17070delA
  variant of: http://identifiers.org/hgnc/14052
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl transcript: ENST00000470197
  gene symbol: GCFC2
  hgvsc: ENST00000470197.1:n.1155-42delT
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000437767
  ensembl transcript: ENST00000541687
  gene symbol: GCFC2
  hgvsc: ENST00000541687.1:c.*932-42delT
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000474136
  ensembl transcript: ENST00000472230
  gene symbol: GCFC2
  hgvsc: ENST00000472230.1:c.*1603-42delT
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000005436
  ensembl protein: ENSP00000409340
  ensembl transcript: ENST00000427862
  gene symbol: GCFC2
  hgvsc: ENST00000427862.1:c.67-42delT
  variant of: http://identifiers.org/hgnc/1317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115364
  ensembl protein: ENSP00000351639
  ensembl transcript: ENST00000358788
  gene symbol: MRPL19
  hgvsc: ENST00000358788.6:c.476-6211delA
  variant of: http://identifiers.org/hgnc/14052
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 3
reference allele: GA

GenotypeQuality
all individuals: 175
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30516
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 926
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2450
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2238
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1560
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1281
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2312
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5170
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 226
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6881
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1207
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3374
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528911720637251e-5
allele num: 65406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10036
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16074
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.17e0

DP
type: SiteQuality
SIO_000300: 1.589708e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 1.367e0

MQRankSum
type: SiteQuality
SIO_000300: 1.53e-1

QD
type: SiteQuality
SIO_000300: 1.347e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

GenotypeQuality
all individuals: 342
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2307
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28776
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1926
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 924
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2308
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3371
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1689
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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African
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Other
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 4.571776897287413e-4
allele num: 6562
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European (Non-Finnish)
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allele frequency: 9.1875172265948e-5
allele num: 65306
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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QD
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DP
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VQSLOD
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ClippingRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 3.047851264858275e-4
allele num: 6562
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Other
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East 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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European (Non-Finnish)
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allele frequency: 1.83981356555869e-4
allele num: 65224
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South Asian
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allele frequency: 0.0e0
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VQSLOD
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BaseQRankSum
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QD
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ClippingRankSum
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MQRankSum
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DP
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ReadPosRankSum
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MQ
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FS
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.172332942555686e-4
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65184
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African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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MQRankSum
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DP
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QD
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VQSLOD
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ClippingRankSum
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MQ
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InbreedingCoeff
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FS
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 15894
num of homozygotes: 0

African
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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

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

European (Non-Finnish)
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allele count: 25
allele frequency: 3.836238644733612e-4
allele num: 65168
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.21e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

DP
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VQSLOD
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6598
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

Other
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allele frequency: 2.212389380530973e-3
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.011776044333343e-5
allele num: 66406
num of homozygotes: 0

East Asian
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allele count: 6
allele frequency: 6.958942240779402e-4
allele num: 8622
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.05e0

QD
type: SiteQuality
SIO_000300: 1.254e1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.502494140272853e-5
allele num: 66556
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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

Latino
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allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

African
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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
allele num: 906
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.099e0

DP
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VQSLOD
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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MQ
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SIO_000300: 6.0e1

QD
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SIO_000300: 1.094e1

GenotypeQuality
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variant carriers: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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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South Asian
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allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

VQSLOD
type: SiteQuality
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QD
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MQRankSum
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DP
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InbreedingCoeff
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FS
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SIO_000300: 1.165e0

ClippingRankSum
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SIO_000300: -6.76e-1

MQ
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.21e-1

BaseQRankSum
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SIO_000300: -1.23e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 906
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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10352
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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: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.529e0

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.153e0

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

Other
type: Population
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allele frequency: 2.207505518763797e-3
allele num: 906
num of homozygotes: 0

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

East Asian
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allele count: 256
allele frequency: 2.958169632539866e-2
allele num: 8654
num of homozygotes: 2

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

South Asian
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allele frequency: 1.211387038158692e-4
allele num: 16510
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
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DP
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InbreedingCoeff
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QD
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MQ
type: SiteQuality
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FS
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ClippingRankSum
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

South Asian
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allele frequency: 6.05766900896535e-5
allele num: 16508
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African
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East Asian
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allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

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

East Asian
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European (Finnish)
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allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

South Asian
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Latino
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

FS
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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VQSLOD
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MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

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

Latino
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num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 1.50177209106746e-5
allele num: 66588
num of homozygotes: 0

South Asian
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
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ClippingRankSum
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BaseQRankSum
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FS
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QD
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ReadPosRankSum
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MQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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East Asian
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num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10170
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.053268765133172e-4
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66442
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.63e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 8.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.63e-1

QD
type: SiteQuality
SIO_000300: 1.662e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-2

DP
type: SiteQuality
SIO_000300: 2.135734e6

GenotypeQuality
all individuals: 2739
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30227
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 723
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3627
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7453
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1874
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9557
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2574
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 3.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66442
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.832841691248771e-5
allele num: 10170
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e0

VQSLOD
type: SiteQuality
SIO_000300: 3.63e0

MQRankSum
type: SiteQuality
SIO_000300: 7.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.964e1

DP
type: SiteQuality
SIO_000300: 2.135734e6

FS
type: SiteQuality
SIO_000300: 8.36e-1

QD
type: SiteQuality
SIO_000300: 1.662e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.18e-1

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1875
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 55
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 320
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variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 7.5e0
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.861932938856015e-5
allele num: 10140
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66334
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.72e-1

MQ
type: SiteQuality
SIO_000300: 5.998e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.84e-1

DP
type: SiteQuality
SIO_000300: 2.128919e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQRankSum
type: SiteQuality
SIO_000300: 8.149999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.661e1

GenotypeQuality
all individuals: 579
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 7220
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 9563
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variant carriers: 8

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 107
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variant carriers: 0

GenotypeQuality
all individuals: 2734
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1296
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.019961948479449e-5
allele num: 66226
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.677542519958348e-5
allele num: 11524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

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

South Asian
type: Population
allele count: 5
allele frequency: 3.038774766014343e-4
allele num: 16454
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.358e1

VQSLOD
type: SiteQuality
SIO_000300: 4.96e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.97e-1

FS
type: SiteQuality
SIO_000300: 9.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e0

DP
type: SiteQuality
SIO_000300: 2.117077e6

GenotypeQuality
all individuals: 28467
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9563
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 445
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variant carriers: 0

GenotypeQuality
all individuals: 107
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variant carriers: 0

GenotypeQuality
all individuals: 96
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variant carriers: 0

GenotypeQuality
all individuals: 1874
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variant carriers: 0

GenotypeQuality
all individuals: 2525
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variant carriers: 0

GenotypeQuality
all individuals: 3601
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variant carriers: 0

GenotypeQuality
all individuals: 1296
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 4.75e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 5
allele frequency: 4.938759383642829e-4
allele num: 10124
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66226
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.117077e6

FS
type: SiteQuality
SIO_000300: 9.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.96e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e0

QD
type: SiteQuality
SIO_000300: 1.358e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-2

GenotypeQuality
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1874
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
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variant carriers: 0

GenotypeQuality
all individuals: 2516
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9551
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 139
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 528
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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 3592
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7164
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.910802775024777e-5
allele num: 10090
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66164
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.018e0

DP
type: SiteQuality
SIO_000300: 2.111412e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.985e0

FS
type: SiteQuality
SIO_000300: 3.274e0

VQSLOD
type: SiteQuality
SIO_000300: 1.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.604e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.522e1

GenotypeQuality
all individuals: 532
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 130
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GenotypeQuality
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GenotypeQuality
all individuals: 1678
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9553
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2726
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3591
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2519
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10094
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66182
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.077549532028686e-5
allele num: 16454
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.07e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.934e0

VQSLOD
type: SiteQuality
SIO_000300: -3.794e0

FS
type: SiteQuality
SIO_000300: 2.6327e1

DP
type: SiteQuality
SIO_000300: 2.111076e6

QD
type: SiteQuality
SIO_000300: 1.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.29e-1

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1874
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2726
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7186
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10094
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.53295457979511e-5
allele num: 66182
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.83e-1

DP
type: SiteQuality
SIO_000300: 2.111076e6

QD
type: SiteQuality
SIO_000300: 1.35e0

MQRankSum
type: SiteQuality
SIO_000300: -3.934e0

FS
type: SiteQuality
SIO_000300: 2.6327e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -3.794e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.61e-1

MQ
type: SiteQuality
SIO_000300: 5.07e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1874
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
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GenotypeQuality
all individuals: 7028
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1294
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 255
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GenotypeQuality
all individuals: 671
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66122
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.080505898090721e-5
allele num: 16446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10080
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.642e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

MQRankSum
type: SiteQuality
SIO_000300: 8.999999999999999e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

MQ
type: SiteQuality
SIO_000300: 5.955e1

VQSLOD
type: SiteQuality
SIO_000300: -1.301e-1

FS
type: SiteQuality
SIO_000300: 7.913e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.75e-1

DP
type: SiteQuality
SIO_000300: 2.101759e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

GenotypeQuality
all individuals: 1067
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1415
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1868
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variant carriers: 0

GenotypeQuality
all individuals: 3564
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2703
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6858
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1286
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.991238550378335e-4
allele num: 10044
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.692628650904033e-5
allele num: 11504
num of homozygotes: 0

South Asian
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allele count: 9
allele frequency: 5.475118627570264e-4
allele num: 16438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 31
allele frequency: 4.694551291758791e-4
allele num: 66034
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.083524e6

MQRankSum
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BaseQRankSum
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SIO_000300: -6.95e-1

ClippingRankSum
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SIO_000300: -3.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

QD
type: SiteQuality
SIO_000300: 1.411e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10026
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8516
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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.305e1

FS
type: SiteQuality
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MQRankSum
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ClippingRankSum
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SIO_000300: -2.9e-2

MQ
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InbreedingCoeff
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VQSLOD
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SIO_000300: -1.051e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.957e0

DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10016
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8508
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.031864900100051e-5
allele num: 65966
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.281e0

MQRankSum
type: SiteQuality
SIO_000300: -5.03e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
type: SiteQuality
SIO_000300: -7.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9986
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65926
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.704735376044568e-5
allele num: 11488
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16418
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8494
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.61e-1

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 6.05e0

MQRankSum
type: SiteQuality
SIO_000300: 6.31e-1

QD
type: SiteQuality
SIO_000300: 1.673e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.29e0

GenotypeQuality
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variant carriers: 1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520958812435359e-5
allele num: 65748
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ReadPosRankSum
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SIO_000300: -1.574e0

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.952e0

VQSLOD
type: SiteQuality
SIO_000300: -1.503e0

FS
type: SiteQuality
SIO_000300: 3.222e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

QD
type: SiteQuality
SIO_000300: 1.311e1

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.097560975609756e-5
allele num: 16400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65668
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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East Asian
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
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SIO_000300: -1.461e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6576
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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allele num: 11454
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East Asian
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allele count: 1
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allele num: 8394
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South Asian
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allele frequency: 0.0e0
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Other
type: Population
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ClippingRankSum
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QD
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FS
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MQRankSum
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VQSLOD
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ReadPosRankSum
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DP
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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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 count: 6
allele frequency: 9.229349330872173e-5
allele num: 65010
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Other
type: Population
allele count: 0
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BaseQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.961576e6

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

Latino
type: Population
allele count: 1
allele frequency: 9.208103130755064e-5
allele num: 10860
num of homozygotes: 0

European (Non-Finnish)
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South Asian
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African
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
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QD
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.500092e6

ClippingRankSum
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MQ
type: SiteQuality
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ReadPosRankSum
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SIO_000300: -1.387e0

VQSLOD
type: SiteQuality
SIO_000300: -9.134e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.68e-1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9372
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 58616
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.838573267144696e-4
allele num: 10878
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 15422
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.755e0

FS
type: SiteQuality
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MQ
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MQRankSum
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VQSLOD
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DP
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8276
num of homozygotes: 0

African
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allele frequency: 2.133105802047782e-4
allele num: 9376
num of homozygotes: 0

Other
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South Asian
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allele frequency: 1.295672454003628e-4
allele num: 15436
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6362
num of homozygotes: 0

European (Non-Finnish)
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allele count: 13
allele frequency: 2.212690631808279e-4
allele num: 58752
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.85e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.516857e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.469979296066253e-5
allele num: 15456
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 59092
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6374
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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
allele num: 9396
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Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.362e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
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SIO_000300: 0.0e0

DP
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MQRankSum
type: SiteQuality
SIO_000300: -1.28e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.595e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.54e-1

QD
type: SiteQuality
SIO_000300: 8.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.69e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6394
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8390
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15486
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African
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allele count: 0
allele frequency: 0.0e0
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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: 1.678528266416006e-5
allele num: 59576
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e0

FS
type: SiteQuality
SIO_000300: 5.707e0

MQ
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.2e0

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.568761e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 15486
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 10962
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African
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Other
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allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8414
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.673752217721688e-5
allele num: 59746
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6396
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MQRankSum
type: SiteQuality
SIO_000300: -1.34e-1

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

Latino
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allele frequency: 1.365374112506827e-3
allele num: 10986
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African
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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Other
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FS
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QD
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VQSLOD
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MQ
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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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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Latino
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European (Non-Finnish)
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allele num: 60630
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InbreedingCoeff
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QD
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ReadPosRankSum
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DP
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FS
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MQRankSum
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VQSLOD
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MQ
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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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 num: 60754
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Latino
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East Asian
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Other
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European (Finnish)
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InbreedingCoeff
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ClippingRankSum
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MQ
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FS
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MQRankSum
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VQSLOD
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BaseQRankSum
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QD
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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East Asian
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South Asian
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African
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European (Non-Finnish)
type: Population
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allele frequency: 1.64009709374795e-5
allele num: 60972
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Other
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allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.013e0

VQSLOD
type: SiteQuality
SIO_000300: -2.853e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

FS
type: SiteQuality
SIO_000300: 9.98e-1

QD
type: SiteQuality
SIO_000300: 9.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.922e1

DP
type: SiteQuality
SIO_000300: 1.610975e6

GenotypeQuality
all individuals: 415
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11068
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.049538203190596e-4
allele num: 9528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15634
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.95e-1

MQ
type: SiteQuality
SIO_000300: 5.861e1

QD
type: SiteQuality
SIO_000300: 8.640000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 2.45e0

MQRankSum
type: SiteQuality
SIO_000300: 7.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.620293e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 115
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variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11084
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9536
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15648
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.625117821042025e-5
allele num: 61534
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.028e-1

DP
type: SiteQuality
SIO_000300: 1.623521e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.087e1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.58e-1

FS
type: SiteQuality
SIO_000300: 4.591e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

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

GenotypeQuality
all individuals: 564
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 451
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variant carriers: 0

GenotypeQuality
all individuals: 4542
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9540
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11092
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.193255843658194e-4
allele num: 15658
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.622533748701973e-5
allele num: 61632
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.07e-1

DP
type: SiteQuality
SIO_000300: 1.625302e6

QD
type: SiteQuality
SIO_000300: 1.568e1

VQSLOD
type: SiteQuality
SIO_000300: -3.867e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 5.884e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 601
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variant carriers: 0

GenotypeQuality
all individuals: 43818
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.617390179206832e-5
allele num: 61828
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15668
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11106
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.05e-1

DP
type: SiteQuality
SIO_000300: 1.630671e6

MQ
type: SiteQuality
SIO_000300: 5.934e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.323e0

MQRankSum
type: SiteQuality
SIO_000300: 1.25e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

QD
type: SiteQuality
SIO_000300: 1.146e1

FS
type: SiteQuality
SIO_000300: 7.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-2

GenotypeQuality
all individuals: 347
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
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variant carriers: 0

GenotypeQuality
all individuals: 214
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 51
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GenotypeQuality
all individuals: 1021
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1011
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.240965807810727e-5
allele num: 61710
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15684
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11118
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.2e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.93e-1

DP
type: SiteQuality
SIO_000300: 1.629097e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.572e1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 7

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 201
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GenotypeQuality
all individuals: 1020
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.04384133611691e-4
allele num: 9580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.731413001167769e-5
allele num: 61656
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11110
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.628669e6

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

FS
type: SiteQuality
SIO_000300: 3.376e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.239e0

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.051e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.02e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 24
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2166
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5081
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11098
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.276650070215754e-4
allele num: 15666
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61478
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.55e-1

DP
type: SiteQuality
SIO_000300: 1.625573e6

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.119e1

VQSLOD
type: SiteQuality
SIO_000300: 4.01e0

QD
type: SiteQuality
SIO_000300: 1.223e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 42502
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GenotypeQuality
all individuals: 508
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.17343346632246e-4
allele num: 8522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61260
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11082
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15650
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.621724e6

MQRankSum
type: SiteQuality
SIO_000300: 7.87e-1

MQ
type: SiteQuality
SIO_000300: 5.844e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.25e-1

QD
type: SiteQuality
SIO_000300: 1.351e1

GenotypeQuality
all individuals: 317
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
all individuals: 587
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GenotypeQuality
all individuals: 131
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GenotypeQuality
all individuals: 30
bin: 1.25e1
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GenotypeQuality
all individuals: 2163
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GenotypeQuality
all individuals: 272
bin: 3.75e1
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GenotypeQuality
all individuals: 281
bin: 9.25e1
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GenotypeQuality
all individuals: 201
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61076
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6446
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11076
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.393044367727913e-5
allele num: 15642
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.448e0

QD
type: SiteQuality
SIO_000300: 1.228e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

FS
type: SiteQuality
SIO_000300: 2.1106e1

VQSLOD
type: SiteQuality
SIO_000300: -4.427e0

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 1.619282e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.37e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 200
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60932
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11070
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9542
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15640
num of homozygotes: 0

East Asian
type: Population
allele count: 9
allele frequency: 1.057579318448884e-3
allele num: 8510
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.616856e6

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.6e-2

QD
type: SiteQuality
SIO_000300: 1.055e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.17e-1

FS
type: SiteQuality
SIO_000300: 1.928e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59940
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.725785934944576e-4
allele num: 11006
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15542
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.397e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.01e-1

MQ
type: SiteQuality
SIO_000300: 5.752e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.12e0

DP
type: SiteQuality
SIO_000300: 1.59941e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 4.737e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.138e0

MQRankSum
type: SiteQuality
SIO_000300: -3.83e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6362
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.699062117711024e-5
allele num: 58856
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10938
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15470
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.1e-1

MQ
type: SiteQuality
SIO_000300: 5.903e1

DP
type: SiteQuality
SIO_000300: 1.579772e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

VQSLOD
type: SiteQuality
SIO_000300: -9.665e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.492e0

QD
type: SiteQuality
SIO_000300: 1.481e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.703577512776831e-5
allele num: 58700
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10912
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6360
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9352
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e0

QD
type: SiteQuality
SIO_000300: 1.161e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.67e-1

DP
type: SiteQuality
SIO_000300: 1.575419e6

FS
type: SiteQuality
SIO_000300: 6.422e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9252
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8230
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.737015806843842e-5
allele num: 57570
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15364
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.23e-2

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.59e-1

DP
type: SiteQuality
SIO_000300: 1.543696e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.835e0

QD
type: SiteQuality
SIO_000300: 7.53e0

MQ
type: SiteQuality
SIO_000300: 5.986e1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15342
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10810
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.743496757096032e-5
allele num: 57356
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9228
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ClippingRankSum
type: SiteQuality
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MQRankSum
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BaseQRankSum
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QD
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DP
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8160
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15298
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.759943681802182e-5
allele num: 56820
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10760
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6280
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.693e0

MQ
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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ClippingRankSum
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.769848854907791e-5
allele num: 56502
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8122
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
type: Population
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allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.82e1

MQRankSum
type: SiteQuality
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FS
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ClippingRankSum
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QD
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
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allele frequency: 0.0e0
allele num: 15134
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.817388775806921e-5
allele num: 55024
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.112842198976185e-4
allele num: 8986
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6174
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.019e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.48e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.324e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

MQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.6e-2

DP
type: SiteQuality
SIO_000300: 1.4608e6

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
all individuals: 28006
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6138
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.624296962879641e-4
allele num: 8890
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7882
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54124
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10422
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15048
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

QD
type: SiteQuality
SIO_000300: 1.446e1

MQRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

DP
type: SiteQuality
SIO_000300: 1.42378e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.4e-1

FS
type: SiteQuality
SIO_000300: 8.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.75e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 39

GenotypeQuality
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GenotypeQuality
all individuals: 271
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 3.742374911118596e-4
allele num: 53442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7808
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14978
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 20
allele frequency: 3.279763857002296e-3
allele num: 6098
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.390593e6

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

MQ
type: SiteQuality
SIO_000300: 5.951e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

QD
type: SiteQuality
SIO_000300: 1.569e1

VQSLOD
type: SiteQuality
SIO_000300: 3.09e0

FS
type: SiteQuality
SIO_000300: 9.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 155
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5966
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50938
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10006
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.77323218639935e-5
allele num: 14764
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.723e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-3

FS
type: SiteQuality
SIO_000300: 4.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.139e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.22e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: -1.03e0

DP
type: SiteQuality
SIO_000300: 1.271572e6

VQSLOD
type: SiteQuality
SIO_000300: -2.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14744
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5938
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9986
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.977848101265823e-5
allele num: 50560
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.16e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.399999999999999e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.259e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-1

DP
type: SiteQuality
SIO_000300: 1.249381e6

VQSLOD
type: SiteQuality
SIO_000300: 6.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.057e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5778
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14340
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9600
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.116850127011008e-5
allele num: 47240
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.24e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e0

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.169594e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

VQSLOD
type: SiteQuality
SIO_000300: -1.871e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5520
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.229612492770387e-5
allele num: 13832
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.284026707755521e-4
allele num: 7788
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 690
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43100
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6928
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8896
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.113674e6

MQ
type: SiteQuality
SIO_000300: 5.904e1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.67e-2

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.75e0

FS
type: SiteQuality
SIO_000300: 8.169999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.975e-1