9-130476737-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130476737
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130476737
    reference: chr 9
allele count: 3
allele frequency: 2.473084595980413e-5
allele num: 121306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.309-34G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.416+145G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+977G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.382-34G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.417-34G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-796C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-796C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1164C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.417-34G>A
  variant of: http://identifiers.org/hgnc/27039
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6989
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16981
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD

9-130476747-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130476747
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130476747
    reference: chr 9
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1174G>C
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+967C>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.416+135C>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.417-44C>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-786G>C
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-786G>C
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.417-44C>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.382-44C>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.309-44C>G
  variant of: http://identifiers.org/hgnc/27039
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35296
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ

9-130476833-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130476833
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130476833
    reference: chr 9
allele count: 2
allele frequency: 1.731062179753497e-5
allele num: 115536
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-700C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.381+49G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.416+49G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+881G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.416+49G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1260C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.309-130G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-700C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.416+49G>A
  variant of: http://identifiers.org/hgnc/27039
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15039
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11687
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7614
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14524
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1793
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4301
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff

9-130476836-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130476836
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130476836
    reference: chr 9
allele count: 2
allele frequency: 1.732201628269531e-5
allele num: 115460
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-697G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1263G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+878C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.309-133C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.381+46C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.416+46C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.416+46C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-697G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.416+46C>T
  variant of: http://identifiers.org/hgnc/27039
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14454
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7624
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2498
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1479
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4251
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22016
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/9-130476852-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130476852
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130476852
    reference: chr 9
allele count: 260
allele frequency: 2.249913464866736e-3
allele num: 115560
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.381+30T>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.416+30T>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1279A>C
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.416+30T>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-681A>C
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.416+30T>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.309-149T>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+862T>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-681A>C
  variant of: http://identifiers.org/hgnc/27843
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 20690
  bin: 2.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 1.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 6731
  bin: 1.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4122
  bin: 3.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2608
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 14375
  bin: 2.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29145
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3066
  bin: 9.75e1
  variant carriers: 252
num of homozygotes: 4
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/9-130476859-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130476859
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130476859
    reference: chr 9
allele count: 9
allele frequency: 7.780890133831311e-5
allele num: 115668
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1286C>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+855G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.416+23G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.416+23G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-674C>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-674C>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.381+23G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.309-156G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.416+23G>T
  variant of: http://identifiers.org/hgnc/27039
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22231
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14613
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6043
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6095
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30816
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

9-130476861-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130476861
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130476861
    reference: chr 9
allele count: 3
allele frequency: 2.593002350988798e-5
allele num: 115696
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+853G>C
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.416+21G>C
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.416+21G>C
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1288C>G
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.309-158G>C
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.381+21G>C
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.416+21G>C
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-672C>G
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-672C>G
  variant of: http://identifiers.org/hgnc/27843
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5759
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2584
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5878
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2517
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31276
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4836
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum

9-130476877-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130476877
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130476877
    reference: chr 9
allele count: 8
allele frequency: 6.885037093137339e-5
allele num: 116194
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.416+5G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.416+5G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1304C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.309-174G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-656C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.416+5G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.381+5G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+837G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-656C>T
  variant of: http://identifiers.org/hgnc/27843
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25229
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4363
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
hgvs: c.416+5G>A
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

9-130476889-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130476889
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130476889
    reference: chr 9
allele count: 3
allele frequency: 2.573384343529654e-5
allele num: 116578
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+825A>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-644T>C
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.409A>G
  hgvsp: ENSP00000439469.1:p.Ser137Gly
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-644T>C
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.409A>G
  hgvsp: ENSP00000418661.1:p.Ser137Gly
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1316T>C
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.374A>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.409A>G
  hgvsp: ENSP00000418219.1:p.Ser137Gly
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.309-186A>G
  variant of: http://identifiers.org/hgnc/27039
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2373
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27019
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3998
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1414
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser137Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

9-130476890-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130476890
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130476890
    reference: chr 9
allele count: 1
allele frequency: 8.608963652955456e-6
allele num: 116158
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-643G>C
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+824C>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.408C>G
  hgvsp: ENST00000543175.1:c.408C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.309-187C>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.373C>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.408C>G
  hgvsp: ENST00000419060.1:c.408C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.408C>G
  hgvsp: ENST00000423807.1:c.408C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1317G>C
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-643G>C
  variant of: http://identifiers.org/hgnc/27843
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26816
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37844
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly136Gly
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: G
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

9-130476890-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130476890
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130476891
    reference: chr 9
allele count: 2
allele frequency: 1.721792730591091e-5
allele num: 116158
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-637dupC
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+823dupG
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.309-188dupG
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-637dupC
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.407dupG
  hgvsp: ENSP00000418219.1:p.Ser137GlnfsTer64
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.407dupG
  hgvsp: ENSP00000418661.1:p.Ser137GlnfsTer13
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.372dupG
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.407dupG
  hgvsp: ENSP00000439469.1:p.Ser137GlnfsTer13
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1323dupC
  variant of: http://identifiers.org/hgnc/27843
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16603
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser137GlnfsTer13
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/9-130476891-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130476891
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130476891
    reference: chr 9
allele count: 1
allele frequency: 8.608074373762589e-6
allele num: 116170
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-642C>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.309-188G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-642C>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.407G>T
  hgvsp: ENSP00000418661.1:p.Gly136Val
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1318C>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.407G>T
  hgvsp: ENSP00000418219.1:p.Gly136Val
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+823G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.372G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.407G>T
  hgvsp: ENSP00000439469.1:p.Gly136Val
  variant of: http://identifiers.org/hgnc/27039
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26882
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2831
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly136Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/9-130476899-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130476899
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130476899
    reference: chr 9
allele count: 1
allele frequency: 8.586049386956073e-6
allele num: 116468
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.399G>T
  hgvsp: ENSP00000439469.1:p.Lys133Asn
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.309-196G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.364G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-634C>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1326C>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+815G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-634C>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.399G>T
  hgvsp: ENSP00000418219.1:p.Lys133Asn
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.399G>T
  hgvsp: ENSP00000418661.1:p.Lys133Asn
  variant of: http://identifiers.org/hgnc/27039
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1698
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys133Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/9-130476907-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130476907
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130476907
    reference: chr 9
allele count: 2
allele frequency: 1.723840717117738e-5
allele num: 116020
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.391G>T
  hgvsp: ENSP00000439469.1:p.Ala131Ser
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.356G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.309-204G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.391G>T
  hgvsp: ENSP00000418661.1:p.Ala131Ser
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.391G>T
  hgvsp: ENSP00000418219.1:p.Ala131Ser
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+807G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.424G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-626C>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-626C>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1334C>A
  variant of: http://identifiers.org/hgnc/27843
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2589
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27036
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala131Ser
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

9-130476915-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130476915
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130476915
    reference: chr 9
allele count: 1
allele frequency: 8.652465087303372e-6
allele num: 115574
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.416G>C
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.383G>C
  hgvsp: ENSP00000418661.1:p.Gly128Ala
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.309-212G>C
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.383G>C
  hgvsp: ENSP00000439469.1:p.Gly128Ala
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.348G>C
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1342C>G
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.383G>C
  hgvsp: ENSP00000418219.1:p.Gly128Ala
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-618C>G
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+799G>C
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-618C>G
  variant of: http://identifiers.org/hgnc/27843
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17556
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26677
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly128Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

9-130476916-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130476916
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130476916
    reference: chr 9
allele count: 2
allele frequency: 1.735448266287182e-5
allele num: 115244
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.382G>A
  hgvsp: ENSP00000418661.1:p.Gly128Arg
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.382G>A
  hgvsp: ENSP00000439469.1:p.Gly128Arg
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-617C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.382G>A
  hgvsp: ENSP00000418219.1:p.Gly128Arg
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.347G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+798G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1343C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.415G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.309-213G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-617C>T
  variant of: http://identifiers.org/hgnc/27843
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1701
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1732
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26240
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly128Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

9-130476921-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130476921
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130476921
    reference: chr 9
allele count: 1
allele frequency: 8.705947903607744e-6
allele num: 114864
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1348G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.309-218C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.377C>T
  hgvsp: ENSP00000439469.1:p.Pro126Leu
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.377C>T
  hgvsp: ENSP00000418661.1:p.Pro126Leu
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+793C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.342C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.410C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-612G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-612G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.377C>T
  hgvsp: ENSP00000418219.1:p.Pro126Leu
  variant of: http://identifiers.org/hgnc/27039
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4761
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5301
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro126Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS

9-130476922-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130476922
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130476922
    reference: chr 9
allele count: 58
allele frequency: 5.058698344584577e-4
allele num: 114654
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1349G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.341C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.376C>T
  hgvsp: ENSP00000418219.1:p.Pro126Ser
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-611G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.376C>T
  hgvsp: ENSP00000439469.1:p.Pro126Ser
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.376C>T
  hgvsp: ENSP00000418661.1:p.Pro126Ser
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+792C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.409C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-611G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.309-219C>T
  variant of: http://identifiers.org/hgnc/27039
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17261
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25867
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4728
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro126Ser
num of homozygotes: 1
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

9-130476924-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130476924
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130476924
    reference: chr 9
allele count: 1
allele frequency: 8.720980935935674e-6
allele num: 114666
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.374A>G
  hgvsp: ENSP00000418219.1:p.Lys125Arg
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.407A>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1351T>C
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.339A>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.374A>G
  hgvsp: ENSP00000439469.1:p.Lys125Arg
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.374A>G
  hgvsp: ENSP00000418661.1:p.Lys125Arg
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.309-221A>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-609T>C
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-609T>C
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+790A>G
  variant of: http://identifiers.org/hgnc/27039
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17184
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5446
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys125Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

9-130476930-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130476930
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130476930
    reference: chr 9
allele count: 2
allele frequency: 1.757129553161955e-5
allele num: 113822
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.368T>A
  hgvsp: ENSP00000418219.1:p.Leu123Gln
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.333T>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-603A>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.368T>A
  hgvsp: ENSP00000439469.1:p.Leu123Gln
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.401T>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.368T>A
  hgvsp: ENSP00000418661.1:p.Leu123Gln
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-603A>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.309-227T>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+784T>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1357A>T
  variant of: http://identifiers.org/hgnc/27843
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16855
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25923
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4643
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6052
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu123Gln
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

9-130476945-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130476945
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130476944
    reference: chr 9
allele count: 2
allele frequency: 1.812513593851954e-5
allele num: 110344
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.352delC
  hgvsp: ENSP00000418661.1:p.Leu118TrpfsTer15
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.317delC
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.352delC
  hgvsp: ENSP00000439469.1:p.Leu118TrpfsTer15
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1374delG
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.309-243delC
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.385delC
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.352delC
  hgvsp: ENSP00000418219.1:p.Leu118TrpfsTer15
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-586delG
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+768delC
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-586delG
  variant of: http://identifiers.org/hgnc/27843
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5550
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5365
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22900
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu118TrpfsTer15
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: AG
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

9-130476946-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130476946
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130476946
    reference: chr 9
allele count: 1
allele frequency: 9.100174723354689e-6
allele num: 109888
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.385C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-587G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.317C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+768C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.352C>T
  hgvsp: ENST00000419060.1:c.352C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.352C>T
  hgvsp: ENST00000543175.1:c.352C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-587G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.352C>T
  hgvsp: ENST00000423807.1:c.352C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.309-243C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1373G>A
  variant of: http://identifiers.org/hgnc/27843
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5569
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5779
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22483
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu118Leu
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

9-130476948-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130476948
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130476949
    reference: chr 9
allele count: 1
allele frequency: 9.208781494032709e-6
allele num: 108592
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-584dupA
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+765dupT
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.349dupT
  hgvsp: ENSP00000418661.1:p.Tyr117LeufsTer5
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.349dupT
  hgvsp: ENSP00000418219.1:p.Tyr117LeufsTer5
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1376dupA
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-584dupA
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.382dupT
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.349dupT
  hgvsp: ENSP00000439469.1:p.Tyr117LeufsTer5
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.314dupT
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.309-246dupT
  variant of: http://identifiers.org/hgnc/27039
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6072
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6476
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr117LeufsTer5
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ

9-130476958-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130476958
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130476958
    reference: chr 9
allele count: 1
allele frequency: 9.722519299200808e-6
allele num: 102854
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.340G>A
  hgvsp: ENSP00000418661.1:p.Glu114Lys
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-575C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-575C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.340G>A
  hgvsp: ENSP00000418219.1:p.Glu114Lys
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.340G>A
  hgvsp: ENSP00000439469.1:p.Glu114Lys
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+756G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.309-255G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1385C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.305G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.373G>A
  variant of: http://identifiers.org/hgnc/27039
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9856
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8812
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14041
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu114Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

9-130476967-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130476967
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130476967
    reference: chr 9
allele count: 1
allele frequency: 1.024863180765368e-5
allele num: 97574
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+747C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.364C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.331C>T
  hgvsp: ENST00000423807.1:c.331C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.331C>T
  hgvsp: ENST00000543175.1:c.331C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-566G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.331C>T
  hgvsp: ENST00000419060.1:c.331C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.296C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-566G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1394G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.309-264C>T
  variant of: http://identifiers.org/hgnc/27039
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12929
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2819
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1013
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu111Leu
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

9-130476974-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130476974
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130476974
    reference: chr 9
allele count: 1
allele frequency: 1.074898959497807e-5
allele num: 93032
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-559C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.324G>A
  hgvsp: ENST00000423807.1:c.324G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+740G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.324G>A
  hgvsp: ENST00000419060.1:c.324G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.309-271G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1401C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.289G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.324G>A
  hgvsp: ENST00000543175.1:c.324G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-559C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.357G>A
  variant of: http://identifiers.org/hgnc/27039
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15697
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2933
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu108Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

9-130476976-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130476976
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130476976
    reference: chr 9
allele count: 1
allele frequency: 1.104362230811706e-5
allele num: 90550
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.355C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-557G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.322C>T
  hgvsp: ENST00000419060.1:c.322C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.309-273C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.322C>T
  hgvsp: ENST00000543175.1:c.322C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-557G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1403G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.322C>T
  hgvsp: ENST00000423807.1:c.322C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+738C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.287C>T
  variant of: http://identifiers.org/hgnc/27039
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16980
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2233
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu108Leu
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

9-130476994-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130476994
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130476994
    reference: chr 9
allele count: 1
allele frequency: 1.269389931199066e-5
allele num: 78778
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1421A>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.308+260T>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.317-13T>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.282-13T>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.317-13T>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-539A>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.350-13T>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.317-13T>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-539A>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+720T>A
  variant of: http://identifiers.org/hgnc/27039
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17848
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2814
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3839
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP

9-130476998-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130476998
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130476998
    reference: chr 9
allele count: 1
allele frequency: 1.340734186040276e-5
allele num: 74586
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1425G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-535G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.350-17C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.282-17C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.317-17C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+716C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.317-17C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.317-17C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-535G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.308+256C>T
  variant of: http://identifiers.org/hgnc/27039
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21064
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3508
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4464
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4046
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/9-130477005-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477005
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477005
    reference: chr 9
allele count: 1
allele frequency: 1.44654997830175e-5
allele num: 69130
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.317-24G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.282-24G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.317-24G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.317-24G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-528C>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1432C>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.308+249G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-528C>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.350-24G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+709G>T
  variant of: http://identifiers.org/hgnc/27039
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19929
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19763
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4129
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

9-130477006-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477006
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477006
    reference: chr 9
allele count: 2
allele frequency: 2.895026344739737e-5
allele num: 69084
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.282-25A>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.317-25A>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-527T>C
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+708A>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.317-25A>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-527T>C
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1433T>C
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.308+248A>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.350-25A>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.317-25A>G
  variant of: http://identifiers.org/hgnc/27039
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19879
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5558
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19863
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1387
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27311
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ

9-130477010-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477010
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477010
    reference: chr 9
allele count: 3
allele frequency: 4.481759239893633e-5
allele num: 66938
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.317-29A>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.308+244A>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1437T>C
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.317-29A>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-523T>C
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-523T>C
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.282-29A>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+704A>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.317-29A>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.350-29A>G
  variant of: http://identifiers.org/hgnc/27039
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6295
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20376
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19065
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1709
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3480
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2475
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ

9-130477013-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477013
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477013
    reference: chr 9
allele count: 1
allele frequency: 1.627498209751969e-5
allele num: 61444
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1440T>C
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.308+241A>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-520T>C
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+701A>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.282-32A>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.317-32A>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.317-32A>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.350-32A>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-520T>C
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.317-32A>G
  variant of: http://identifiers.org/hgnc/27039
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4052
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21755
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17094
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3676
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/9-130477020-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477020
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477020
    reference: chr 9
allele count: 15
allele frequency: 2.522025691035039e-4
allele num: 59476
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.317-39G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.317-39G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+694G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1447C>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-513C>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.282-39G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-513C>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.350-39G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.317-39G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.308+234G>T
  variant of: http://identifiers.org/hgnc/27039
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22806
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16098
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7425
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8897
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 849
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

9-130477022-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477022
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477022
    reference: chr 9
allele count: 2
allele frequency: 3.50852571749351e-5
allele num: 57004
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.282-41C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.350-41C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.317-41C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.317-41C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+692C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.308+232C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-511G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.317-41C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1449G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-511G>A
  variant of: http://identifiers.org/hgnc/27843
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23811
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7494
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15058
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3986
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9268
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/9-130477023-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477023
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477023
    reference: chr 9
allele count: 1
allele frequency: 1.754078231889142e-5
allele num: 57010
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.317-42G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1450C>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-510C>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.350-42G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.317-42G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-510C>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+691G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.308+231G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.282-42G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.317-42G>T
  variant of: http://identifiers.org/hgnc/27039
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23874
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7510
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15018
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9281
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20236
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ

9-130477023-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477023
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477023
    reference: chr 9
allele count: 1
allele frequency: 1.754078231889142e-5
allele num: 57010
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.308+231G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-510C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.350-42G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.282-42G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.317-42G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-510C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+691G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1450C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.317-42G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.317-42G>A
  variant of: http://identifiers.org/hgnc/27039
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7510
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23874
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15018
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1911
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20236
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2239
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 8.75e1
  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: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

9-130477029-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477029
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477029
    reference: chr 9
allele count: 3
allele frequency: 5.466870763175159e-5
allele num: 54876
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.317-48C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.308+225C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.317-48C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.282-48C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-504G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1456G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.350-48C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-504G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+685C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.317-48C>T
  variant of: http://identifiers.org/hgnc/27039
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14074
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7552
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24855
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9374
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2810
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/9-130477033-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477033
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477033
    reference: chr 9
allele count: 1
allele frequency: 1.918722898039065e-5
allele num: 52118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+681G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.282-52G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.350-52G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.317-52G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-500C>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.317-52G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1460C>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-500C>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.317-52G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.308+221G>T
  variant of: http://identifiers.org/hgnc/27039
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3783
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7531
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13792
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8817
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

9-130477224-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477224
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477224
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 6
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-309G>C
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.316+30C>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-309G>C
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.308+30C>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+490C>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.316+30C>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.316+30C>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1651G>C
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.281+30C>G
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.349+30C>G
  variant of: http://identifiers.org/hgnc/27039
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  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: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

9-130477295-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477295
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477295
    reference: chr 9
allele count: 1
allele frequency: 3.201024327784891e-4
allele num: 3124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.308G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-238C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.240G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+419G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.275G>A
  hgvsp: ENSP00000439469.1:p.Arg92Gln
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1722C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.275G>A
  hgvsp: ENSP00000418661.1:p.Arg92Gln
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.267G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.275G>A
  hgvsp: ENSP00000418219.1:p.Arg92Gln
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-238C>T
  variant of: http://identifiers.org/hgnc/27843
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23655
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 844
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg92Gln
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

9-130477321-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477321
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477321
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 6266
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.241T>C
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1748A>G
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.249T>C
  hgvsp: ENST00000419060.1:c.249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.249T>C
  hgvsp: ENST00000543175.1:c.249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-212A>G
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-212A>G
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.214T>C
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.249T>C
  hgvsp: ENST00000423807.1:c.249T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+393T>C
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.282T>C
  variant of: http://identifiers.org/hgnc/27039
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.25e1
  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 depth: GenotypeDepth
  all individuals: 3566
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24687
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp83Asp
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

9-130477341-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477341
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477341
    reference: chr 9
allele count: 1
allele frequency: 1.329080276448698e-4
allele num: 7524
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.194G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.229G>A
  hgvsp: ENSP00000418219.1:p.Ala77Thr
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.229G>A
  hgvsp: ENSP00000418661.1:p.Ala77Thr
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-192C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1768C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.262G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.229G>A
  hgvsp: ENSP00000439469.1:p.Ala77Thr
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-192C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.221G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+373G>A
  variant of: http://identifiers.org/hgnc/27039
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29436
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2448
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala77Thr
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

9-130477346-TCGG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477346
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477343
    reference: chr 9
allele count: 2
allele frequency: 2.56278831368529e-4
allele num: 7804
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1778_1780delGGC
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.186_188delCCG
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+365_213+367delCCG
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.221_223delCCG
  hgvsp: ENSP00000439469.1:p.Ala74del
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.221_223delCCG
  hgvsp: ENSP00000418219.1:p.Ala74del
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.254_256delCCG
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-182_326-180delGGC
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-182_252-180delGGC
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.221_223delCCG
  hgvsp: ENSP00000418661.1:p.Ala74del
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.213_215delCCG
  variant of: http://identifiers.org/hgnc/27039
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30487
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2618
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala74del
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
reference allele: TCGG
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

9-130477347-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477347
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477347
    reference: chr 9
allele count: 1
allele frequency: 1.270971021860702e-4
allele num: 7868
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1774C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.223G>A
  hgvsp: ENSP00000418219.1:p.Asp75Asn
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-186C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.215G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.188G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.256G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.223G>A
  hgvsp: ENSP00000439469.1:p.Asp75Asn
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.223G>A
  hgvsp: ENSP00000418661.1:p.Asp75Asn
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-186C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+367G>A
  variant of: http://identifiers.org/hgnc/27039
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30718
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  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: 1
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2670
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3514
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp75Asn
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

9-130477348-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477348
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477348
    reference: chr 9
allele count: 2
allele frequency: 2.515090543259558e-4
allele num: 7952
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1775G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.187C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-185G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-185G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.222C>T
  hgvsp: ENST00000543175.1:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.222C>T
  hgvsp: ENST00000423807.1:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+366C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.222C>T
  hgvsp: ENST00000419060.1:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.214C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.255C>T
  variant of: http://identifiers.org/hgnc/27039
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala74Ala
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

9-130477349-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477349
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477348
    reference: chr 9
allele count: 1
allele frequency: 1.247193813918683e-4
allele num: 8018
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.212delG
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.220delG
  hgvsp: ENSP00000439469.1:p.Ala74ProfsTer22
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-183delC
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.220delG
  hgvsp: ENSP00000418219.1:p.Ala74ProfsTer22
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1777delC
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.185delG
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.220delG
  hgvsp: ENSP00000418661.1:p.Ala74ProfsTer22
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.253delG
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+364delG
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-183delC
  variant of: http://identifiers.org/hgnc/27843
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala74ProfsTer22
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: GC
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

9-130477350-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477350
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477350
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 8070
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.220G>C
  hgvsp: ENSP00000418661.1:p.Ala74Pro
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+364G>C
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.185G>C
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1777C>G
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-183C>G
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.220G>C
  hgvsp: ENSP00000439469.1:p.Ala74Pro
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.220G>C
  hgvsp: ENSP00000418219.1:p.Ala74Pro
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-183C>G
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.212G>C
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.253G>C
  variant of: http://identifiers.org/hgnc/27039
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31462
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3505
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 1.25e1
  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: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27946
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3609
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala74Pro
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

9-130477356-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477356
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477356
    reference: chr 9
allele count: 2
allele frequency: 2.34192037470726e-4
allele num: 8540
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-177A>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.179T>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+358T>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.247T>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1783A>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.214T>A
  hgvsp: ENSP00000418219.1:p.Cys72Ser
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.214T>A
  hgvsp: ENSP00000439469.1:p.Cys72Ser
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.214T>A
  hgvsp: ENSP00000418661.1:p.Cys72Ser
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-177A>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.206T>A
  variant of: http://identifiers.org/hgnc/27039
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3718
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32858
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  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 quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3031
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Cys72Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

9-130477362-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477362
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477362
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 8872
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.208C>T
  hgvsp: ENSP00000418661.1:p.Arg70Trp
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.208C>T
  hgvsp: ENSP00000439469.1:p.Arg70Trp
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-171G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-171G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.200C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.208C>T
  hgvsp: ENSP00000418219.1:p.Arg70Trp
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.173C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1789G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+352C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.241C>T
  variant of: http://identifiers.org/hgnc/27039
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4280
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34169
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2829
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg70Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/9-130477367-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477367
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477367
    reference: chr 9
allele count: 3
allele frequency: 3.286590709903593e-4
allele num: 9128
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.203G>T
  hgvsp: ENSP00000418661.1:p.Arg68Leu
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.195G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.203G>T
  hgvsp: ENSP00000418219.1:p.Arg68Leu
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.168G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.236G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.203G>T
  hgvsp: ENSP00000439469.1:p.Arg68Leu
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+347G>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-166C>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1794C>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-166C>A
  variant of: http://identifiers.org/hgnc/27843
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35068
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4953
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  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: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32518
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg68Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

9-130477397-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477397
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477397
    reference: chr 9
allele count: 1
allele frequency: 9.865824782951855e-5
allele num: 10136
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.173G>A
  hgvsp: ENSP00000418661.1:p.Arg58Gln
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.173G>A
  hgvsp: ENSP00000439469.1:p.Arg58Gln
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1824C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-136C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.138G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.165G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-136C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.206G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.173G>A
  hgvsp: ENSP00000418219.1:p.Arg58Gln
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+317G>A
  variant of: http://identifiers.org/hgnc/27039
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9639
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34313
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7986
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg58Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum

9-130477415-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477415
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477415
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 10862
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.120T>C
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+299T>C
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.155T>C
  hgvsp: ENSP00000439469.1:p.Val52Ala
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.155T>C
  hgvsp: ENSP00000418661.1:p.Val52Ala
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-118A>G
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.155T>C
  hgvsp: ENSP00000418219.1:p.Val52Ala
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.188T>C
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1842A>G
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.147T>C
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-118A>G
  variant of: http://identifiers.org/hgnc/27843
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33011
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12217
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  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: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10399
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Val52Ala
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum

9-130477435-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477435
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477435
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 11180
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1862T>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.100A>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+279A>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.168A>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.127A>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.135A>T
  hgvsp: ENST00000543175.1:c.135A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-98T>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.135A>T
  hgvsp: ENST00000423807.1:c.135A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.135A>T
  hgvsp: ENST00000419060.1:c.135A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-98T>A
  variant of: http://identifiers.org/hgnc/27843
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  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: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10698
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34235
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8667
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2319
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1779
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg45Arg
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

9-130477439-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477439
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477439
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 10996
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.164C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.131C>T
  hgvsp: ENSP00000439469.1:p.Thr44Met
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.131C>T
  hgvsp: ENSP00000418219.1:p.Thr44Met
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.123C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.131C>T
  hgvsp: ENSP00000418661.1:p.Thr44Met
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+275C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-94G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.96C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1866G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-94G>A
  variant of: http://identifiers.org/hgnc/27843
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34761
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9869
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2054
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr44Met
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

9-130477443-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477443
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477443
    reference: chr 9
allele count: 1
allele frequency: 9.281603861147207e-5
allele num: 10774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.127G>A
  hgvsp: ENSP00000418219.1:p.Gly43Ser
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-90C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.127G>A
  hgvsp: ENSP00000439469.1:p.Gly43Ser
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.160G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-90C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.92G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+271G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.127G>A
  hgvsp: ENSP00000418661.1:p.Gly43Ser
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1870C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.119G>A
  variant of: http://identifiers.org/hgnc/27039
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9445
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34882
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32619
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6952
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly43Ser
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

9-130477453-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477453
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477453
    reference: chr 9
allele count: 1
allele frequency: 9.189487226612754e-5
allele num: 10882
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.150C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.117C>T
  hgvsp: ENST00000543175.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.109C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.117C>T
  hgvsp: ENST00000419060.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-80G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+261C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-80G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.82C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.117C>T
  hgvsp: ENST00000423807.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1880G>A
  variant of: http://identifiers.org/hgnc/27843
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35386
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9021
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1719
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro39Pro
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

9-130477458-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477458
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477457
    reference: chr 9
allele count: 1
allele frequency: 9.167583425009168e-5
allele num: 10908
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.111delG
  hgvsp: ENSP00000439469.1:p.Asn38IlefsTer58
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.111delG
  hgvsp: ENSP00000418219.1:p.Asn38IlefsTer58
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-71delC
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-71delC
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.103delG
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.76delG
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.144delG
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.111delG
  hgvsp: ENSP00000418661.1:p.Asn38IlefsTer58
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+255delG
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1889delC
  variant of: http://identifiers.org/hgnc/27843
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8495
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35472
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1939
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn38IlefsTer58
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: TC
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

9-130477481-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477481
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477481
    reference: chr 9
allele count: 1
allele frequency: 9.380863039399625e-5
allele num: 10660
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.97-8G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+233G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.97-8G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.89-8G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.97-8G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1908C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.122G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-52C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.62-8G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-52C>T
  variant of: http://identifiers.org/hgnc/27843
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2104
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
hgvs: c.97-8G>A
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD

9-130477491-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477491
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477491
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 10980
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.89-18C>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.326-42G>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.97-18C>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.112C>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+223C>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.252-42G>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.97-18C>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.62-18C>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1918G>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.97-18C>A
  variant of: http://identifiers.org/hgnc/27039
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 32941
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2584
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

9-130477536-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477536
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477536
    reference: chr 9
allele count: 1
allele frequency: 8.080155138978668e-5
allele num: 12376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.62-63G>C
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.97-63G>C
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.89-63G>C
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.97-63G>C
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+178G>C
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.255C>G
  hgvsp: ENST00000373293.5:c.255C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1963C>G
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.97-63G>C
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.109-42G>C
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.329C>G
  variant of: http://identifiers.org/hgnc/27843
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3594
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21941
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val85Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

9-130477543-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477543
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477543
    reference: chr 9
allele count: 2
allele frequency: 1.602307322544464e-4
allele num: 12482
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.97-70C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1970G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.97-70C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+171C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.89-70C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.336G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.97-70C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.262G>A
  hgvsp: ENSP00000362391.5:p.Ala88Thr
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.62-70C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.109-49C>T
  variant of: http://identifiers.org/hgnc/27039
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18559
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala88Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP

9-130477566-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477566
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477566
    reference: chr 9
allele count: 2
allele frequency: 1.563966218329684e-4
allele num: 12788
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.97-93G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.109-72G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.97-93G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.285C>T
  hgvsp: ENST00000373293.5:c.285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.62-93G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.1993C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.89-93G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.359C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+148G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.97-93G>A
  variant of: http://identifiers.org/hgnc/27039
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17327
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3635
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn95Asn
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

9-130477586-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477586
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477586
    reference: chr 9
allele count: 2
allele frequency: 1.507613447911955e-4
allele num: 13266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.2013G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.97-113C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.62-113C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.97-113C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.89-113C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.97-113C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.379G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.305G>A
  hgvsp: ENSP00000362391.5:p.Gly102Glu
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.109-92C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+128C>T
  variant of: http://identifiers.org/hgnc/27039
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16677
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2929
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly102Glu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

9-130477594-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477594
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477594
    reference: chr 9
allele count: 33
allele frequency: 2.457185405807893e-3
allele num: 13430
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.97-121C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+120C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.109-100C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.89-121C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.313G>A
  hgvsp: ENSP00000362391.5:p.Ala105Thr
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.97-121C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.2021G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.387G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.62-121C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.97-121C>T
  variant of: http://identifiers.org/hgnc/27039
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 16750
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3259
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4085
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala105Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

9-130477597-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477597
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477597
    reference: chr 9
allele count: 3
allele frequency: 2.221563981042654e-4
allele num: 13504
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.97-124G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.97-124G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.97-124G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.109-103G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.2024C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.89-124G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.316C>T
  hgvsp: ENSP00000362391.5:p.Arg106Ter
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.390C>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+117G>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.62-124G>A
  variant of: http://identifiers.org/hgnc/27039
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14164
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg106Ter
num of homozygotes: 1
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

9-130477605-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477605
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477605
    reference: chr 9
allele count: 1
allele frequency: 7.26321905868681e-5
allele num: 13768
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.324G>A
  hgvsp: ENST00000373293.5:c.324G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000461104
  gene symbol: C9orf117
  hgvsc: ENST00000461104.1:n.398G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.89-132C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+109C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.2032G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.97-132C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.62-132C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.97-132C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.109-111C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.97-132C>T
  variant of: http://identifiers.org/hgnc/27039
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18529
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2949
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg108Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

9-130477649-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477649
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477649
    reference: chr 9
allele count: 1
allele frequency: 6.75949709341625e-5
allele num: 14794
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.61+174C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.96+174C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.109-155C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.96+174C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.2076G>A
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.88+174C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.368G>A
  hgvsp: ENSP00000362391.5:p.Gly123Asp
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+65C>T
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.96+174C>T
  variant of: http://identifiers.org/hgnc/27039
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2451
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30498
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4585
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27485
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly123Asp
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

9-130477652-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 130477652
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 130477652
    reference: chr 9
allele count: 1
allele frequency: 6.72314105149926e-5
allele num: 14874
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000414832
  gene symbol: PTRH1
  hgvsc: ENST00000414832.1:n.88+171C>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000439469
  ensembl transcript: ENST00000543175
  gene symbol: PTRH1
  hgvsc: ENST00000543175.1:c.96+171C>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000160401
  ensembl protein: ENSP00000362391
  ensembl transcript: ENST00000373293
  gene symbol: C9orf117
  hgvsc: ENST00000373293.5:c.371G>T
  hgvsp: ENSP00000362391.5:p.Arg124Met
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418219
  ensembl transcript: ENST00000423807
  gene symbol: PTRH1
  hgvsc: ENST00000423807.1:c.96+171C>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000160401
  ensembl transcript: ENST00000464092
  gene symbol: C9orf117
  hgvsc: ENST00000464092.1:n.2079G>T
  variant of: http://identifiers.org/hgnc/27843
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000335223
  gene symbol: PTRH1
  hgvsc: ENST00000335223.5:n.213+62C>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000456267
  gene symbol: PTRH1
  hgvsc: ENST00000456267.1:n.61+171C>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl protein: ENSP00000418661
  ensembl transcript: ENST00000419060
  gene symbol: PTRH1
  hgvsc: ENST00000419060.1:c.96+171C>A
  variant of: http://identifiers.org/hgnc/27039
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000187024
  ensembl transcript: ENST00000416214
  gene symbol: PTRH1
  hgvsc: ENST00000416214.1:n.109-158C>A
  variant of: http://identifiers.org/hgnc/27039
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31768
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2101
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg124Met
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 3391
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 8828
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 146
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3995
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3543
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35886
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2362
bin: 8.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.500045000450004e-5
allele num: 66666
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.213e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.24e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.839e0

DP
type: SiteQuality
SIO_000300: 1.628515e6

FS
type: SiteQuality
SIO_000300: 1.3414e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.75e-1

QD
type: SiteQuality
SIO_000300: 1.104e1

GenotypeQuality
all individuals: 185
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8799
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3394
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3546
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4000
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 897
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2359
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.11e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

QD
type: SiteQuality
SIO_000300: 1.469e1

DP
type: SiteQuality
SIO_000300: 1.62576e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
all individuals: 261
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4250
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19043
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3896
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4656
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4726
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3891
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1014
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2489
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1525
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2876
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 634
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15980
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10988
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8260
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9984
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5688
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.135189365437672e-5
allele num: 63792
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.102e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.34e0

VQSLOD
type: SiteQuality
SIO_000300: 7.21e-1

DP
type: SiteQuality
SIO_000300: 1.395437e6

MQRankSum
type: SiteQuality
SIO_000300: -2.7e-2

FS
type: SiteQuality
SIO_000300: 2.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

GenotypeQuality
all individuals: 510
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4904
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2602
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2874
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 989
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2385
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3869
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4685
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1523
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4004
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63726
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9976
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5686
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.424242424242424e-4
allele num: 8250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10994
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15984
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.28e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.94e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.749e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.424e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.396439e6

GenotypeQuality
all individuals: 188
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3308
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5053
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1496
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4571
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2216
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3139
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1368
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1424
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1762
bin: 4.75e1
variant carriers: 1

African
type: Population
allele count: 252
allele frequency: 2.518488906656006e-2
allele num: 10006
num of homozygotes: 4

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.566416040100251e-5
allele num: 63840
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8292
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15950
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5594
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.441683294032287e-4
allele num: 11026
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.173708920187793e-3
allele num: 852
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.422918e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

QD
type: SiteQuality
SIO_000300: 1.472e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.18e0

GenotypeQuality
all individuals: 48
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1493
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4873
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 955
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2885
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1147
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4650
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2641
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1396
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2071
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2844
bin: 9.75e1
variant carriers: 9

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8324
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 5.645464809936018e-4
allele num: 15942
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11054
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5590
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63900
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

DP
type: SiteQuality
SIO_000300: 1.433998e6

FS
type: SiteQuality
SIO_000300: 7.705e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.14e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

QD
type: SiteQuality
SIO_000300: 1.345e1

VQSLOD
type: SiteQuality
SIO_000300: 4.97e-1

GenotypeQuality
all individuals: 143
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2839
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 961
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1402
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1130
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 796
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2737
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1393
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4638
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1413
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 513
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11064
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63942
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.88276641144722e-4
allele num: 15934
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8328
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9998
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.374e1

VQSLOD
type: SiteQuality
SIO_000300: -1.695e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.917e0

FS
type: SiteQuality
SIO_000300: 1.3683e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.438204e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.12e-1

GenotypeQuality
all individuals: 1102
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1900
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4744
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1066
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1393
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1486
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2839
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 632
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1410
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35094
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 8
allele frequency: 7.987220447284345e-4
allele num: 10016
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11156
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15950
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.362e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

MQRankSum
type: SiteQuality
SIO_000300: 9.05e-1

FS
type: SiteQuality
SIO_000300: 1.853e0

DP
type: SiteQuality
SIO_000300: 1.46983e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.972e1

GenotypeQuality
all individuals: 959
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1023
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2836
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1417
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38248
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1069
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1257
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4982
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.651307017271853e-5
allele num: 64498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15966
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8436
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10044
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11204
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5572
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 9.119999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.19e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

DP
type: SiteQuality
SIO_000300: 1.495766e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.97e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

GenotypeQuality
all individuals: 1078
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4853
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
all individuals: 98
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1387
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2831
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 626
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11170
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5550
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9996
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15920
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.556178026766262e-5
allele num: 64260
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.936e1

MQRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.501983e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.36e-1

QD
type: SiteQuality
SIO_000300: 1.1e0

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

GenotypeQuality
all individuals: 1387
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3958
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2831
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 547
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variant carriers: 0

GenotypeQuality
all individuals: 1050
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1078
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 720
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variant carriers: 0

GenotypeQuality
all individuals: 4853
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37844
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variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1359
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.112356053532524e-5
allele num: 64260
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9996
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15920
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11170
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

QD
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.01e-1

DP
type: SiteQuality
SIO_000300: 1.501983e6

MQ
type: SiteQuality
SIO_000300: 5.936e1

MQRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

GenotypeQuality
all individuals: 727
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4872
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 38192
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
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variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1363
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3956
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variant carriers: 0

GenotypeQuality
all individuals: 114
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GenotypeQuality
all individuals: 972
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 537
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variant carriers: 0

GenotypeQuality
all individuals: 1379
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 937
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11164
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15922
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.556178026766262e-5
allele num: 64260
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10008
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.65e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.88e-2

QD
type: SiteQuality
SIO_000300: 7.12e0

DP
type: SiteQuality
SIO_000300: 1.504707e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.93e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.502e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

GenotypeQuality
all individuals: 878
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 951
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2830
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 71
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5013
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3896
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1400
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variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 518
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GenotypeQuality
all individuals: 496
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variant carriers: 0

GenotypeQuality
all individuals: 39600
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1364
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.550820383983127e-5
allele num: 64482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15948
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10014
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.366e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.28e0

MQRankSum
type: SiteQuality
SIO_000300: -5.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-1

DP
type: SiteQuality
SIO_000300: 1.507616e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.615e0

GenotypeQuality
all individuals: 800
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4256
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1354
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23
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GenotypeQuality
all individuals: 4880
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variant carriers: 0

GenotypeQuality
all individuals: 68
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GenotypeQuality
all individuals: 611
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GenotypeQuality
all individuals: 1058
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GenotypeQuality
all individuals: 2831
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 620
bin: 4.75e1
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GenotypeQuality
all individuals: 87
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1384
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38553
bin: 6.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8402
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.111097284012071e-5
allele num: 64286
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11166
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9948
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15854
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.372e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.153e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e0

QD
type: SiteQuality
SIO_000300: 8.68e0

MQRankSum
type: SiteQuality
SIO_000300: 6.46e-1

DP
type: SiteQuality
SIO_000300: 1.506868e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.657e0

GenotypeQuality
all individuals: 928
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39353
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4907
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variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.25e1
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GenotypeQuality
all individuals: 308
bin: 5.75e1
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GenotypeQuality
all individuals: 621
bin: 9.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1345
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64020
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11128
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.194172438500119e-4
allele num: 8374
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15818
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9902
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.297e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

FS
type: SiteQuality
SIO_000300: 4.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 5.39e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.50333e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.33e-1

GenotypeQuality
all individuals: 78
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
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GenotypeQuality
all individuals: 1055
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4922
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1327
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4803
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1364
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2831
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 38234
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.80635838150289e-4
allele num: 11072
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15802
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5468
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9872
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.498334e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-2

QD
type: SiteQuality
SIO_000300: 1.003e1

VQSLOD
type: SiteQuality
SIO_000300: -2.412e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.33e-1

FS
type: SiteQuality
SIO_000300: 8.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.569e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.389999999999999e-1

GenotypeQuality
all individuals: 1320
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9832
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15740
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11018
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8302
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.570055893989826e-5
allele num: 63692
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

DP
type: SiteQuality
SIO_000300: 1.490266e6

VQSLOD
type: SiteQuality
SIO_000300: -2.374e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.228e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.37e-1

QD
type: SiteQuality
SIO_000300: 9.199999999999999e0

FS
type: SiteQuality
SIO_000300: 1.3475e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 57

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 497
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variant carriers: 0

GenotypeQuality
all individuals: 1346
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10978
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5428
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63594
num of homozygotes: 0

East Asian
type: Population
allele count: 42
allele frequency: 5.065123010130246e-3
allele num: 8292
num of homozygotes: 0

South Asian
type: Population
allele count: 16
allele frequency: 1.017682228724081e-3
allele num: 15722
num of homozygotes: 1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.665e0

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

QD
type: SiteQuality
SIO_000300: 1.139e1

FS
type: SiteQuality
SIO_000300: 5.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.84e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

DP
type: SiteQuality
SIO_000300: 1.490008e6

GenotypeQuality
all individuals: 1350
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8288
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10974
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63604
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5434
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: 1
allele frequency: 6.356470887363335e-5
allele num: 15732
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.488231e6

FS
type: SiteQuality
SIO_000300: 7.93e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.749999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 9.300000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.02e-1

GenotypeQuality
all individuals: 576
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 799
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 724
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variant carriers: 0

GenotypeQuality
all individuals: 322
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variant carriers: 0

GenotypeQuality
all individuals: 54
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variant carriers: 0

GenotypeQuality
all individuals: 28
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variant carriers: 0

GenotypeQuality
all individuals: 71
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 913
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 912
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 37918
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2830
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1309
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8254
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15642
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.833180568285976e-4
allele num: 10910
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9712
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5354
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.774e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.47636e6

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.144e1

GenotypeQuality
all individuals: 428
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 474
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.900057001710051e-4
allele num: 10526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15172
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7934
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61366
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.71e0

DP
type: SiteQuality
SIO_000300: 1.428305e6

QD
type: SiteQuality
SIO_000300: 8.32e0

FS
type: SiteQuality
SIO_000300: 1.114e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.635376463661935e-5
allele num: 61148
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15126
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5112
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7894
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQRankSum
type: SiteQuality
SIO_000300: 8.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

QD
type: SiteQuality
SIO_000300: 3.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.54e-1

DP
type: SiteQuality
SIO_000300: 1.422522e6

VQSLOD
type: SiteQuality
SIO_000300: -3.039e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.84e-1

GenotypeQuality
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bin: 2.75e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9234
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7746
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4964
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.670224119530417e-5
allele num: 14992
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

QD
type: SiteQuality
SIO_000300: 1.181e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.49e0

DP
type: SiteQuality
SIO_000300: 1.405406e6

MQ
type: SiteQuality
SIO_000300: 6.067e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 848
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1090
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57656
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7150
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14374
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.142857142857143e-4
allele num: 8750
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9476
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

DP
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SIO_000300: 1.313967e6

VQSLOD
type: SiteQuality
SIO_000300: -2.791e-1

ClippingRankSum
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SIO_000300: 3.07e-1

QD
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SIO_000300: 8.050000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

FS
type: SiteQuality
SIO_000300: 7.025e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.09e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6682
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54882
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 1.141813199360585e-4
allele num: 8758
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4360
num of homozygotes: 0

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

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 8.42e-1

InbreedingCoeff
type: SiteQuality
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MQ
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ClippingRankSum
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SIO_000300: -5.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.77e0

MQRankSum
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DP
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SIO_000300: 1.230071e6

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4112
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8000
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6238
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 52452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8094
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 686
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.434944237918216e-5
allele num: 13450
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.152311e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.3e-2

ClippingRankSum
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.324e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7834
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13262
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7730
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5990
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.958403509459089e-5
allele num: 51062
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3998
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.113439e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.898e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.486e0

VQSLOD
type: SiteQuality
SIO_000300: -1.783e0

QD
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SIO_000300: 4.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.33e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.144648965629581e-5
allele num: 12278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44500
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6392
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3318
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6852
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.2e-2

FS
type: SiteQuality
SIO_000300: 4.669e0

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.321e0

QD
type: SiteQuality
SIO_000300: 1.378e1

MQ
type: SiteQuality
SIO_000300: 5.904e1

DP
type: SiteQuality
SIO_000300: 9.43625e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3106
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.37146651489281e-5
allele num: 42168
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 5862
num of homozygotes: 0

African
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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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East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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FS
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.301e-1

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

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

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 542
num of homozygotes: 0

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

Latino
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East Asian
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allele frequency: 2.557544757033248e-4
allele num: 3910
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South Asian
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DP
type: SiteQuality
SIO_000300: 8.63541e5

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

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

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: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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Latino
type: Population
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allele frequency: 3.9032006245121e-4
allele num: 5124
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Other
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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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BaseQRankSum
type: SiteQuality
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FS
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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QD
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DP
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 3
allele frequency: 2.650176678445229e-4
allele num: 11320
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Other
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allele frequency: 0.0e0
allele num: 536
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

VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.56e-2

DP
type: SiteQuality
SIO_000300: 8.45104e5

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

BaseQRankSum
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SIO_000300: 2.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.06e-1

FS
type: SiteQuality
SIO_000300: 7.234e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.11e-1

QD
type: SiteQuality
SIO_000300: 1.221e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5418
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 504
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 9.16254352208173e-5
allele num: 10914
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2426
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3136
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3912
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 35134
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.708e0

QD
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SIO_000300: 1.025e1

DP
type: SiteQuality
SIO_000300: 8.17101e5

MQ
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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SIO_000300: -1.83e-2

FS
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SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: -2.9e-1

ClippingRankSum
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SIO_000300: -6.95e-1

MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 1

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 34068
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 496
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2336
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3660
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10740
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2946
num of homozygotes: 0

African
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allele count: 15
allele frequency: 2.868068833652008e-3
allele num: 5230
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-2

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3294
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10606
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 32672
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5012
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2232
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 7.369196757553427e-4
allele num: 2714
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.93866e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.08e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
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ClippingRankSum
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SIO_000300: 1.03e0

MQRankSum
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ReadPosRankSum
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SIO_000300: -2.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.026e0

QD
type: SiteQuality
SIO_000300: 6.42e0

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2728
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3294
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10604
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5018
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.061099546957267e-5
allele num: 32668
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.83e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.5e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.584e1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

DP
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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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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: 5018
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2728
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 3.061099546957267e-5
allele num: 32668
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 10604
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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ReadPosRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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VQSLOD
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DP
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MQ
type: SiteQuality
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MQRankSum
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QD
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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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African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 9.56327701625757e-5
allele num: 31370
num of homozygotes: 0

Latino
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Other
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East Asian
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allele frequency: 0.0e0
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South Asian
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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QD
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FS
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DP
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BaseQRankSum
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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European (Non-Finnish)
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African
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Other
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South Asian
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FS
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MQ
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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QD
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DP
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VQSLOD
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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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East Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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Other
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South Asian
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African
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MQ
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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DP
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VQSLOD
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FS
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BaseQRankSum
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InbreedingCoeff
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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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African
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East Asian
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Other
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European (Finnish)
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South Asian
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European (Non-Finnish)
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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DP
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MQRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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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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East Asian
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South Asian
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Other
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European (Non-Finnish)
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Latino
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European (Finnish)
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BaseQRankSum
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ClippingRankSum
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QD
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VQSLOD
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MQ
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FS
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DP
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ReadPosRankSum
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MQRankSum
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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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Other
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European (Finnish)
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European (Non-Finnish)
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South Asian
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East Asian
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African
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VQSLOD
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DP
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QD
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InbreedingCoeff
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FS
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MQ
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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Latino
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East Asian
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African
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Other
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InbreedingCoeff
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ClippingRankSum
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DP
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QD
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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FS
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VQSLOD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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East Asian
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Other
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European (Non-Finnish)
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South Asian
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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FS
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MQRankSum
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ReadPosRankSum
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DP
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Latino
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East Asian
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MQRankSum
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FS
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MQ
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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DP
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VQSLOD
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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East Asian
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European (Non-Finnish)
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MQ
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InbreedingCoeff
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QD
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VQSLOD
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FS
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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DP
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GenotypeQuality
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European (Non-Finnish)
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Latino
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East Asian
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European (Finnish)
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FS
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MQ
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MQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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SIO_000300: 1.76574e5

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1988
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 306
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 72
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 3.365870077415012e-4
allele num: 5942
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.96e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.67e-1

MQ
type: SiteQuality
SIO_000300: 5.72e1

FS
type: SiteQuality
SIO_000300: 4.753e0

VQSLOD
type: SiteQuality
SIO_000300: 2.58e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

DP
type: SiteQuality
SIO_000300: 1.86799e5

QD
type: SiteQuality
SIO_000300: 1.421e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-1

GenotypeQuality
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variant carriers: 1

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2082
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 104
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.82e0

ClippingRankSum
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SIO_000300: 0.0e0

InbreedingCoeff
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FS
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SIO_000300: 0.0e0

QD
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SIO_000300: 1.353e1

DP
type: SiteQuality
SIO_000300: 1.98358e5

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ReadPosRankSum
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.58e-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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GenotypeQuality
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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: 332
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.373626373626374e-3
allele num: 2184
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6268
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 82
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -6.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.690000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.08342e5

VQSLOD
type: SiteQuality
SIO_000300: -1.722e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

QD
type: SiteQuality
SIO_000300: 1.05e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.3e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 3.745318352059925e-4
allele num: 2670
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.770000000000001e-2

DP
type: SiteQuality
SIO_000300: 2.50716e5

VQSLOD
type: SiteQuality
SIO_000300: 1.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 1.584e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 536
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3092
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.72e-1

DP
type: SiteQuality
SIO_000300: 2.72541e5

VQSLOD
type: SiteQuality
SIO_000300: -2.21e0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.389999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-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: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
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
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allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3346
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.761e1

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 7.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.51e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.64e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.151e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 22
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3308
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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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -7.85e-2

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
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variant carriers: 1

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

Other
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allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

African
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num of homozygotes: 0

East Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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MQ
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SIO_000300: 6.0e1

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

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 162
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.824817518248175e-3
allele num: 548
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 262
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3290
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.98e-2

FS
type: SiteQuality
SIO_000300: 6.094e0

QD
type: SiteQuality
SIO_000300: 1.22e1

VQSLOD
type: SiteQuality
SIO_000300: -1.148e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 2.42731e5

GenotypeQuality
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bin: 2.75e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3302
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.552795031055901e-4
allele num: 6440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.28e0

QD
type: SiteQuality
SIO_000300: 1.191e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 6.098e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.03e-2

DP
type: SiteQuality
SIO_000300: 2.39527e5

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3132
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.553760099440646e-4
allele num: 6436
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

FS
type: SiteQuality
SIO_000300: 4.708e0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.01e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.258e0

DP
type: SiteQuality
SIO_000300: 2.09258e5

ClippingRankSum
type: SiteQuality
SIO_000300: 9.27e-1

QD
type: SiteQuality
SIO_000300: 1.146e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
all individuals: 112
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6668
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.05416e5

VQSLOD
type: SiteQuality
SIO_000300: 3.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.06e-2

QD
type: SiteQuality
SIO_000300: 1.081e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 335
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 165
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.326963906581741e-4
allele num: 7536
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3614
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.922e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.599999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.91e-1

QD
type: SiteQuality
SIO_000300: 7.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.066e0

MQRankSum
type: SiteQuality
SIO_000300: -1.022e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.159e0

DP
type: SiteQuality
SIO_000300: 2.06443e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.19e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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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

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

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 568
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.642007926023778e-4
allele num: 7570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.400000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.259e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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VQSLOD
type: SiteQuality
SIO_000300: -8.554e-1

FS
type: SiteQuality
SIO_000300: 1.301e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

DP
type: SiteQuality
SIO_000300: 2.07046e5

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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GenotypeQuality
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GenotypeQuality
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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
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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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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 144
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3724
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.623294858342078e-4
allele num: 7624
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.192e1

FS
type: SiteQuality
SIO_000300: 2.0126e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.44e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.4e-2

DP
type: SiteQuality
SIO_000300: 2.02776e5

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 670
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.623294858342078e-4
allele num: 7624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3832
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

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

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.199e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 100
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 9.75e1
variant carriers: 33

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

South Asian
type: Population
allele count: 33
allele frequency: 4.327301337529505e-3
allele num: 7626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3872
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.7e-2

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: 1.28e-1

FS
type: SiteQuality
SIO_000300: 6.8e0

DP
type: SiteQuality
SIO_000300: 2.10158e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.505e0

VQSLOD
type: SiteQuality
SIO_000300: -1.354e0

QD
type: SiteQuality
SIO_000300: 1.198e1

GenotypeQuality
all individuals: 947
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1051
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 152
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3056
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 83
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3898
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.933910306845004e-4
allele num: 7626
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.414e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.74e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.678e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.801e0

MQRankSum
type: SiteQuality
SIO_000300: 5.85e-1

QD
type: SiteQuality
SIO_000300: 1.841e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

DP
type: SiteQuality
SIO_000300: 2.11992e5

MQ
type: SiteQuality
SIO_000300: 5.939e1

GenotypeQuality
all individuals: 129
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 83
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1098
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 980
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 606
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3964
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.311303435615001e-4
allele num: 7626
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.019e0

QD
type: SiteQuality
SIO_000300: 1.538e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.851e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.84e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

DP
type: SiteQuality
SIO_000300: 2.17608e5

MQRankSum
type: SiteQuality
SIO_000300: -3.02e-1

FS
type: SiteQuality
SIO_000300: 7.314e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.88e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.98e-1

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 999
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7658
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.286236854138089e-4
allele num: 4374
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.39e-2

QD
type: SiteQuality
SIO_000300: 1.127e1

FS
type: SiteQuality
SIO_000300: 4.99e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 2.61919e5

VQSLOD
type: SiteQuality
SIO_000300: -1.322e0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

GenotypeQuality
all individuals: 2826
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28871
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4595
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 9.75e1
variant carriers: 1