1-161088671-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161088671
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161088671
    reference: chr 1
allele count: 2
allele frequency: 1.647690761397901e-5
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496861
  gene symbol: NIT1
  hgvsc: ENST00000496861.1:n.662G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356988
  ensembl transcript: ENST00000368009
  gene symbol: NIT1
  hgvsc: ENST00000368009.2:c.98G>A
  hgvsp: ENSP00000356988.2:p.Arg33Lys
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000486962
  gene symbol: NIT1
  hgvsc: ENST00000486962.1:n.192G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000491497
  gene symbol: NIT1
  hgvsc: ENST00000491497.1:n.501G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000473918
  gene symbol: NIT1
  hgvsc: ENST00000473918.1:n.116-253G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356987
  ensembl transcript: ENST00000368008
  gene symbol: NIT1
  hgvsc: ENST00000368008.1:c.98G>A
  hgvsp: ENSP00000356987.1:p.Arg33Lys
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000478277
  gene symbol: NIT1
  hgvsc: ENST00000478277.1:n.196G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000479266
  gene symbol: NIT1
  hgvsc: ENST00000479266.1:n.75-253G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000492411
  gene symbol: NIT1
  hgvsc: ENST00000492411.1:n.204G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356986
  ensembl transcript: ENST00000368007
  gene symbol: NIT1
  hgvsc: ENST00000368007.4:c.54-253G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000477684
  gene symbol: NIT1
  hgvsc: ENST00000477684.1:n.68-253G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000485594
  gene symbol: NIT1
  hgvsc: ENST00000485594.1:n.96G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000376028
  ensembl transcript: ENST00000392190
  gene symbol: NIT1
  hgvsc: ENST00000392190.5:c.-11G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496768
  gene symbol: NIT1
  hgvsc: ENST00000496768.1:n.171G>A
  variant of: http://identifiers.org/hgnc/7828
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5205
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg33Lys
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

1-161088679-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161088679
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161088679
    reference: chr 1
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356988
  ensembl transcript: ENST00000368009
  gene symbol: NIT1
  hgvsc: ENST00000368009.2:c.98+8G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356987
  ensembl transcript: ENST00000368008
  gene symbol: NIT1
  hgvsc: ENST00000368008.1:c.98+8G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000485594
  gene symbol: NIT1
  hgvsc: ENST00000485594.1:n.96+8G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000473918
  gene symbol: NIT1
  hgvsc: ENST00000473918.1:n.116-245G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000491497
  gene symbol: NIT1
  hgvsc: ENST00000491497.1:n.501+8G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000492411
  gene symbol: NIT1
  hgvsc: ENST00000492411.1:n.204+8G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000478277
  gene symbol: NIT1
  hgvsc: ENST00000478277.1:n.196+8G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356986
  ensembl transcript: ENST00000368007
  gene symbol: NIT1
  hgvsc: ENST00000368007.4:c.54-245G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000477684
  gene symbol: NIT1
  hgvsc: ENST00000477684.1:n.68-245G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000479266
  gene symbol: NIT1
  hgvsc: ENST00000479266.1:n.75-245G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000376028
  ensembl transcript: ENST00000392190
  gene symbol: NIT1
  hgvsc: ENST00000392190.5:c.-11+8G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496861
  gene symbol: NIT1
  hgvsc: ENST00000496861.1:n.662+8G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000486962
  gene symbol: NIT1
  hgvsc: ENST00000486962.1:n.192+8G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496768
  gene symbol: NIT1
  hgvsc: ENST00000496768.1:n.171+8G>A
  variant of: http://identifiers.org/hgnc/7828
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.98+8G>A
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

1-161088691-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161088691
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161088691
    reference: chr 1
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356987
  ensembl transcript: ENST00000368008
  gene symbol: NIT1
  hgvsc: ENST00000368008.1:c.98+20C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000492411
  gene symbol: NIT1
  hgvsc: ENST00000492411.1:n.204+20C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000485594
  gene symbol: NIT1
  hgvsc: ENST00000485594.1:n.96+20C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000473918
  gene symbol: NIT1
  hgvsc: ENST00000473918.1:n.116-233C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000491497
  gene symbol: NIT1
  hgvsc: ENST00000491497.1:n.501+20C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000478277
  gene symbol: NIT1
  hgvsc: ENST00000478277.1:n.196+20C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000479266
  gene symbol: NIT1
  hgvsc: ENST00000479266.1:n.75-233C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000376028
  ensembl transcript: ENST00000392190
  gene symbol: NIT1
  hgvsc: ENST00000392190.5:c.-11+20C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000486962
  gene symbol: NIT1
  hgvsc: ENST00000486962.1:n.192+20C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000477684
  gene symbol: NIT1
  hgvsc: ENST00000477684.1:n.68-233C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496768
  gene symbol: NIT1
  hgvsc: ENST00000496768.1:n.171+20C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496861
  gene symbol: NIT1
  hgvsc: ENST00000496861.1:n.662+20C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356986
  ensembl transcript: ENST00000368007
  gene symbol: NIT1
  hgvsc: ENST00000368007.4:c.54-233C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356988
  ensembl transcript: ENST00000368009
  gene symbol: NIT1
  hgvsc: ENST00000368009.2:c.98+20C>T
  variant of: http://identifiers.org/hgnc/7828
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2798
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/1-161088695-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161088695
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161088695
    reference: chr 1
allele count: 6648
allele frequency: 5.47945205479452e-2
allele num: 121326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496861
  gene symbol: NIT1
  hgvsc: ENST00000496861.1:n.662+24A>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000473918
  gene symbol: NIT1
  hgvsc: ENST00000473918.1:n.116-229A>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000479266
  gene symbol: NIT1
  hgvsc: ENST00000479266.1:n.75-229A>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356987
  ensembl transcript: ENST00000368008
  gene symbol: NIT1
  hgvsc: ENST00000368008.1:c.98+24A>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000485594
  gene symbol: NIT1
  hgvsc: ENST00000485594.1:n.96+24A>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000376028
  ensembl transcript: ENST00000392190
  gene symbol: NIT1
  hgvsc: ENST00000392190.5:c.-11+24A>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000478277
  gene symbol: NIT1
  hgvsc: ENST00000478277.1:n.196+24A>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000492411
  gene symbol: NIT1
  hgvsc: ENST00000492411.1:n.204+24A>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000486962
  gene symbol: NIT1
  hgvsc: ENST00000486962.1:n.192+24A>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496768
  gene symbol: NIT1
  hgvsc: ENST00000496768.1:n.171+24A>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000477684
  gene symbol: NIT1
  hgvsc: ENST00000477684.1:n.68-229A>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356986
  ensembl transcript: ENST00000368007
  gene symbol: NIT1
  hgvsc: ENST00000368007.4:c.54-229A>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000491497
  gene symbol: NIT1
  hgvsc: ENST00000491497.1:n.501+24A>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356988
  ensembl transcript: ENST00000368009
  gene symbol: NIT1
  hgvsc: ENST00000368009.2:c.98+24A>C
  variant of: http://identifiers.org/hgnc/7828
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 8.75e1
  variant carriers: 268
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 8.25e1
  variant carriers: 319
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 6.25e1
  variant carriers: 531
genotype depth: GenotypeDepth
  all individuals: 9983
  bin: 2.75e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 6.75e1
  variant carriers: 482
genotype depth: GenotypeDepth
  all individuals: 3859
  bin: 4.75e1
  variant carriers: 426
genotype depth: GenotypeDepth
  all individuals: 9094
  bin: 3.25e1
  variant carriers: 158
genotype depth: GenotypeDepth
  all individuals: 5067
  bin: 4.25e1
  variant carriers: 370
genotype depth: GenotypeDepth
  all individuals: 10318
  bin: 2.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 9.75e1
  variant carriers: 1389
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 5.75e1
  variant carriers: 482
genotype quality: GenotypeQuality
num of homozygotes: 235
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

1-161088700-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161088700
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161088700
    reference: chr 1
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000491497
  gene symbol: NIT1
  hgvsc: ENST00000491497.1:n.501+29C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000473918
  gene symbol: NIT1
  hgvsc: ENST00000473918.1:n.116-224C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356986
  ensembl transcript: ENST00000368007
  gene symbol: NIT1
  hgvsc: ENST00000368007.4:c.54-224C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000477684
  gene symbol: NIT1
  hgvsc: ENST00000477684.1:n.68-224C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000376028
  ensembl transcript: ENST00000392190
  gene symbol: NIT1
  hgvsc: ENST00000392190.5:c.-11+29C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000461376
  gene symbol: NIT1
  hgvsc: ENST00000461376.1:n.3C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000486962
  gene symbol: NIT1
  hgvsc: ENST00000486962.1:n.192+29C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000492411
  gene symbol: NIT1
  hgvsc: ENST00000492411.1:n.204+29C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000485594
  gene symbol: NIT1
  hgvsc: ENST00000485594.1:n.96+29C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000478277
  gene symbol: NIT1
  hgvsc: ENST00000478277.1:n.196+29C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000479266
  gene symbol: NIT1
  hgvsc: ENST00000479266.1:n.75-224C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356987
  ensembl transcript: ENST00000368008
  gene symbol: NIT1
  hgvsc: ENST00000368008.1:c.98+29C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496861
  gene symbol: NIT1
  hgvsc: ENST00000496861.1:n.662+29C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496768
  gene symbol: NIT1
  hgvsc: ENST00000496768.1:n.171+29C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356988
  ensembl transcript: ENST00000368009
  gene symbol: NIT1
  hgvsc: ENST00000368009.2:c.98+29C>T
  variant of: http://identifiers.org/hgnc/7828
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10628
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

1-161088712-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161088712
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161088712
    reference: chr 1
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000486962
  gene symbol: NIT1
  hgvsc: ENST00000486962.1:n.192+41T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000376028
  ensembl transcript: ENST00000392190
  gene symbol: NIT1
  hgvsc: ENST00000392190.5:c.-11+41T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000492411
  gene symbol: NIT1
  hgvsc: ENST00000492411.1:n.204+41T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000477684
  gene symbol: NIT1
  hgvsc: ENST00000477684.1:n.68-212T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000478277
  gene symbol: NIT1
  hgvsc: ENST00000478277.1:n.196+41T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000473918
  gene symbol: NIT1
  hgvsc: ENST00000473918.1:n.116-212T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496768
  gene symbol: NIT1
  hgvsc: ENST00000496768.1:n.171+41T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000491497
  gene symbol: NIT1
  hgvsc: ENST00000491497.1:n.501+41T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356988
  ensembl transcript: ENST00000368009
  gene symbol: NIT1
  hgvsc: ENST00000368009.2:c.98+41T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356986
  ensembl transcript: ENST00000368007
  gene symbol: NIT1
  hgvsc: ENST00000368007.4:c.54-212T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000485594
  gene symbol: NIT1
  hgvsc: ENST00000485594.1:n.96+41T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000461376
  gene symbol: NIT1
  hgvsc: ENST00000461376.1:n.15T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000479266
  gene symbol: NIT1
  hgvsc: ENST00000479266.1:n.75-212T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356987
  ensembl transcript: ENST00000368008
  gene symbol: NIT1
  hgvsc: ENST00000368008.1:c.98+41T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496861
  gene symbol: NIT1
  hgvsc: ENST00000496861.1:n.662+41T>C
  variant of: http://identifiers.org/hgnc/7828
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

1-161088717-AGTTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161088717
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161088713
    reference: chr 1
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000486962
  gene symbol: NIT1
  hgvsc: ENST00000486962.1:n.192+50_192+53delTGTT
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000478277
  gene symbol: NIT1
  hgvsc: ENST00000478277.1:n.196+50_196+53delTGTT
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000473918
  gene symbol: NIT1
  hgvsc: ENST00000473918.1:n.116-203_116-200delTGTT
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496861
  gene symbol: NIT1
  hgvsc: ENST00000496861.1:n.662+50_662+53delTGTT
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000491497
  gene symbol: NIT1
  hgvsc: ENST00000491497.1:n.501+50_501+53delTGTT
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496768
  gene symbol: NIT1
  hgvsc: ENST00000496768.1:n.171+50_171+53delTGTT
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356988
  ensembl transcript: ENST00000368009
  gene symbol: NIT1
  hgvsc: ENST00000368009.2:c.98+50_98+53delTGTT
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000477684
  gene symbol: NIT1
  hgvsc: ENST00000477684.1:n.68-203_68-200delTGTT
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000492411
  gene symbol: NIT1
  hgvsc: ENST00000492411.1:n.204+50_204+53delTGTT
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356987
  ensembl transcript: ENST00000368008
  gene symbol: NIT1
  hgvsc: ENST00000368008.1:c.98+50_98+53delTGTT
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000461376
  gene symbol: NIT1
  hgvsc: ENST00000461376.1:n.24_27delTGTT
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356986
  ensembl transcript: ENST00000368007
  gene symbol: NIT1
  hgvsc: ENST00000368007.4:c.54-203_54-200delTGTT
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000479266
  gene symbol: NIT1
  hgvsc: ENST00000479266.1:n.75-203_75-200delTGTT
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000485594
  gene symbol: NIT1
  hgvsc: ENST00000485594.1:n.96+50_96+53delTGTT
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000376028
  ensembl transcript: ENST00000392190
  gene symbol: NIT1
  hgvsc: ENST00000392190.5:c.-11+50_-11+53delTGTT
  variant of: http://identifiers.org/hgnc/7828
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7252
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: AGTTT
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

1-161088877-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161088877
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161088877
    reference: chr 1
allele count: 1
allele frequency: 8.298204268596276e-6
allele num: 120508
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000376028
  ensembl transcript: ENST00000392190
  gene symbol: NIT1
  hgvsc: ENST00000392190.5:c.-10-47C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496768
  gene symbol: NIT1
  hgvsc: ENST00000496768.1:n.172-47C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000461376
  gene symbol: NIT1
  hgvsc: ENST00000461376.1:n.180C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000492411
  gene symbol: NIT1
  hgvsc: ENST00000492411.1:n.205-47C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000478277
  gene symbol: NIT1
  hgvsc: ENST00000478277.1:n.197-47C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356988
  ensembl transcript: ENST00000368009
  gene symbol: NIT1
  hgvsc: ENST00000368009.2:c.99-47C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000486962
  gene symbol: NIT1
  hgvsc: ENST00000486962.1:n.193-47C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000473918
  gene symbol: NIT1
  hgvsc: ENST00000473918.1:n.116-47C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000491497
  gene symbol: NIT1
  hgvsc: ENST00000491497.1:n.502-47C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356986
  ensembl transcript: ENST00000368007
  gene symbol: NIT1
  hgvsc: ENST00000368007.4:c.54-47C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496861
  gene symbol: NIT1
  hgvsc: ENST00000496861.1:n.663-47C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000485594
  gene symbol: NIT1
  hgvsc: ENST00000485594.1:n.97-47C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356987
  ensembl transcript: ENST00000368008
  gene symbol: NIT1
  hgvsc: ENST00000368008.1:c.99-47C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000477684
  gene symbol: NIT1
  hgvsc: ENST00000477684.1:n.68-47C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000479266
  gene symbol: NIT1
  hgvsc: ENST00000479266.1:n.75-47C>G
  variant of: http://identifiers.org/hgnc/7828
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4872
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

1-161088879-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161088879
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161088879
    reference: chr 1
allele count: 32
allele frequency: 2.651904398846422e-4
allele num: 120668
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000479266
  gene symbol: NIT1
  hgvsc: ENST00000479266.1:n.75-45T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356988
  ensembl transcript: ENST00000368009
  gene symbol: NIT1
  hgvsc: ENST00000368009.2:c.99-45T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000461376
  gene symbol: NIT1
  hgvsc: ENST00000461376.1:n.182T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496861
  gene symbol: NIT1
  hgvsc: ENST00000496861.1:n.663-45T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496768
  gene symbol: NIT1
  hgvsc: ENST00000496768.1:n.172-45T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000477684
  gene symbol: NIT1
  hgvsc: ENST00000477684.1:n.68-45T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356986
  ensembl transcript: ENST00000368007
  gene symbol: NIT1
  hgvsc: ENST00000368007.4:c.54-45T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000478277
  gene symbol: NIT1
  hgvsc: ENST00000478277.1:n.197-45T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000376028
  ensembl transcript: ENST00000392190
  gene symbol: NIT1
  hgvsc: ENST00000392190.5:c.-10-45T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000486962
  gene symbol: NIT1
  hgvsc: ENST00000486962.1:n.193-45T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000491497
  gene symbol: NIT1
  hgvsc: ENST00000491497.1:n.502-45T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356987
  ensembl transcript: ENST00000368008
  gene symbol: NIT1
  hgvsc: ENST00000368008.1:c.99-45T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000485594
  gene symbol: NIT1
  hgvsc: ENST00000485594.1:n.97-45T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000473918
  gene symbol: NIT1
  hgvsc: ENST00000473918.1:n.116-45T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000492411
  gene symbol: NIT1
  hgvsc: ENST00000492411.1:n.205-45T>C
  variant of: http://identifiers.org/hgnc/7828
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6230
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7267
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7697
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

1-161088885-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161088885
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161088885
    reference: chr 1
allele count: 1
allele frequency: 8.283357078956959e-6
allele num: 120724
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000492411
  gene symbol: NIT1
  hgvsc: ENST00000492411.1:n.205-39T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000491497
  gene symbol: NIT1
  hgvsc: ENST00000491497.1:n.502-39T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496768
  gene symbol: NIT1
  hgvsc: ENST00000496768.1:n.172-39T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356988
  ensembl transcript: ENST00000368009
  gene symbol: NIT1
  hgvsc: ENST00000368009.2:c.99-39T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000461376
  gene symbol: NIT1
  hgvsc: ENST00000461376.1:n.188T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496861
  gene symbol: NIT1
  hgvsc: ENST00000496861.1:n.663-39T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000477684
  gene symbol: NIT1
  hgvsc: ENST00000477684.1:n.68-39T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000473918
  gene symbol: NIT1
  hgvsc: ENST00000473918.1:n.116-39T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356986
  ensembl transcript: ENST00000368007
  gene symbol: NIT1
  hgvsc: ENST00000368007.4:c.54-39T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000486962
  gene symbol: NIT1
  hgvsc: ENST00000486962.1:n.193-39T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000376028
  ensembl transcript: ENST00000392190
  gene symbol: NIT1
  hgvsc: ENST00000392190.5:c.-10-39T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000479266
  gene symbol: NIT1
  hgvsc: ENST00000479266.1:n.75-39T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356987
  ensembl transcript: ENST00000368008
  gene symbol: NIT1
  hgvsc: ENST00000368008.1:c.99-39T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000478277
  gene symbol: NIT1
  hgvsc: ENST00000478277.1:n.197-39T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000485594
  gene symbol: NIT1
  hgvsc: ENST00000485594.1:n.97-39T>C
  variant of: http://identifiers.org/hgnc/7828
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7269
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6231
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-161088896-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161088896
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161088896
    reference: chr 1
allele count: 208
allele frequency: 1.721056463890911e-3
allele num: 120856
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496768
  gene symbol: NIT1
  hgvsc: ENST00000496768.1:n.172-28C>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000491497
  gene symbol: NIT1
  hgvsc: ENST00000491497.1:n.502-28C>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000461376
  gene symbol: NIT1
  hgvsc: ENST00000461376.1:n.199C>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000478277
  gene symbol: NIT1
  hgvsc: ENST00000478277.1:n.197-28C>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000486962
  gene symbol: NIT1
  hgvsc: ENST00000486962.1:n.193-28C>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356988
  ensembl transcript: ENST00000368009
  gene symbol: NIT1
  hgvsc: ENST00000368009.2:c.99-28C>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356986
  ensembl transcript: ENST00000368007
  gene symbol: NIT1
  hgvsc: ENST00000368007.4:c.54-28C>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000473918
  gene symbol: NIT1
  hgvsc: ENST00000473918.1:n.116-28C>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496861
  gene symbol: NIT1
  hgvsc: ENST00000496861.1:n.663-28C>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000479266
  gene symbol: NIT1
  hgvsc: ENST00000479266.1:n.75-28C>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000477684
  gene symbol: NIT1
  hgvsc: ENST00000477684.1:n.68-28C>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356987
  ensembl transcript: ENST00000368008
  gene symbol: NIT1
  hgvsc: ENST00000368008.1:c.99-28C>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000492411
  gene symbol: NIT1
  hgvsc: ENST00000492411.1:n.205-28C>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000485594
  gene symbol: NIT1
  hgvsc: ENST00000485594.1:n.97-28C>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000376028
  ensembl transcript: ENST00000392190
  gene symbol: NIT1
  hgvsc: ENST00000392190.5:c.-10-28C>A
  variant of: http://identifiers.org/hgnc/7828
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4872
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 7691
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 6.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 2.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
num of homozygotes: 2
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
reference allele: C
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

1-161088896-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161088896
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161088896
    reference: chr 1
allele count: 2
allele frequency: 1.654861984510492e-5
allele num: 120856
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000492411
  gene symbol: NIT1
  hgvsc: ENST00000492411.1:n.205-28C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000461376
  gene symbol: NIT1
  hgvsc: ENST00000461376.1:n.199C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000477684
  gene symbol: NIT1
  hgvsc: ENST00000477684.1:n.68-28C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000486962
  gene symbol: NIT1
  hgvsc: ENST00000486962.1:n.193-28C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356987
  ensembl transcript: ENST00000368008
  gene symbol: NIT1
  hgvsc: ENST00000368008.1:c.99-28C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000491497
  gene symbol: NIT1
  hgvsc: ENST00000491497.1:n.502-28C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496768
  gene symbol: NIT1
  hgvsc: ENST00000496768.1:n.172-28C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356988
  ensembl transcript: ENST00000368009
  gene symbol: NIT1
  hgvsc: ENST00000368009.2:c.99-28C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000376028
  ensembl transcript: ENST00000392190
  gene symbol: NIT1
  hgvsc: ENST00000392190.5:c.-10-28C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356986
  ensembl transcript: ENST00000368007
  gene symbol: NIT1
  hgvsc: ENST00000368007.4:c.54-28C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000485594
  gene symbol: NIT1
  hgvsc: ENST00000485594.1:n.97-28C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000473918
  gene symbol: NIT1
  hgvsc: ENST00000473918.1:n.116-28C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496861
  gene symbol: NIT1
  hgvsc: ENST00000496861.1:n.663-28C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000479266
  gene symbol: NIT1
  hgvsc: ENST00000479266.1:n.75-28C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000478277
  gene symbol: NIT1
  hgvsc: ENST00000478277.1:n.197-28C>G
  variant of: http://identifiers.org/hgnc/7828
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7086
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4872
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ

1-161088899-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161088899
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161088899
    reference: chr 1
allele count: 12
allele frequency: 9.925394120858216e-5
allele num: 120902
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000477684
  gene symbol: NIT1
  hgvsc: ENST00000477684.1:n.68-25A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000461376
  gene symbol: NIT1
  hgvsc: ENST00000461376.1:n.202A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000486962
  gene symbol: NIT1
  hgvsc: ENST00000486962.1:n.193-25A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000473918
  gene symbol: NIT1
  hgvsc: ENST00000473918.1:n.116-25A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000485594
  gene symbol: NIT1
  hgvsc: ENST00000485594.1:n.97-25A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356987
  ensembl transcript: ENST00000368008
  gene symbol: NIT1
  hgvsc: ENST00000368008.1:c.99-25A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496861
  gene symbol: NIT1
  hgvsc: ENST00000496861.1:n.663-25A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356986
  ensembl transcript: ENST00000368007
  gene symbol: NIT1
  hgvsc: ENST00000368007.4:c.54-25A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000478277
  gene symbol: NIT1
  hgvsc: ENST00000478277.1:n.197-25A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356988
  ensembl transcript: ENST00000368009
  gene symbol: NIT1
  hgvsc: ENST00000368009.2:c.99-25A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000491497
  gene symbol: NIT1
  hgvsc: ENST00000491497.1:n.502-25A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496768
  gene symbol: NIT1
  hgvsc: ENST00000496768.1:n.172-25A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000376028
  ensembl transcript: ENST00000392190
  gene symbol: NIT1
  hgvsc: ENST00000392190.5:c.-10-25A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000479266
  gene symbol: NIT1
  hgvsc: ENST00000479266.1:n.75-25A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000492411
  gene symbol: NIT1
  hgvsc: ENST00000492411.1:n.205-25A>G
  variant of: http://identifiers.org/hgnc/7828
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7107
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5330
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

1-161088900-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161088900
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161088900
    reference: chr 1
allele count: 3
allele frequency: 2.480856060731356e-5
allele num: 120926
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000461376
  gene symbol: NIT1
  hgvsc: ENST00000461376.1:n.203G>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356987
  ensembl transcript: ENST00000368008
  gene symbol: NIT1
  hgvsc: ENST00000368008.1:c.99-24G>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000492411
  gene symbol: NIT1
  hgvsc: ENST00000492411.1:n.205-24G>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496861
  gene symbol: NIT1
  hgvsc: ENST00000496861.1:n.663-24G>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356988
  ensembl transcript: ENST00000368009
  gene symbol: NIT1
  hgvsc: ENST00000368009.2:c.99-24G>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000376028
  ensembl transcript: ENST00000392190
  gene symbol: NIT1
  hgvsc: ENST00000392190.5:c.-10-24G>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000486962
  gene symbol: NIT1
  hgvsc: ENST00000486962.1:n.193-24G>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000473918
  gene symbol: NIT1
  hgvsc: ENST00000473918.1:n.116-24G>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000478277
  gene symbol: NIT1
  hgvsc: ENST00000478277.1:n.197-24G>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000477684
  gene symbol: NIT1
  hgvsc: ENST00000477684.1:n.68-24G>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496768
  gene symbol: NIT1
  hgvsc: ENST00000496768.1:n.172-24G>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000485594
  gene symbol: NIT1
  hgvsc: ENST00000485594.1:n.97-24G>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356986
  ensembl transcript: ENST00000368007
  gene symbol: NIT1
  hgvsc: ENST00000368007.4:c.54-24G>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000491497
  gene symbol: NIT1
  hgvsc: ENST00000491497.1:n.502-24G>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000479266
  gene symbol: NIT1
  hgvsc: ENST00000479266.1:n.75-24G>T
  variant of: http://identifiers.org/hgnc/7828
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

1-161088911-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161088911
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161088911
    reference: chr 1
allele count: 539
allele frequency: 4.449250478769068e-3
allele num: 121144
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000492411
  gene symbol: NIT1
  hgvsc: ENST00000492411.1:n.205-13A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496861
  gene symbol: NIT1
  hgvsc: ENST00000496861.1:n.663-13A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000477684
  gene symbol: NIT1
  hgvsc: ENST00000477684.1:n.68-13A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000491497
  gene symbol: NIT1
  hgvsc: ENST00000491497.1:n.502-13A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356988
  ensembl transcript: ENST00000368009
  gene symbol: NIT1
  hgvsc: ENST00000368009.2:c.99-13A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000461376
  gene symbol: NIT1
  hgvsc: ENST00000461376.1:n.214A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356987
  ensembl transcript: ENST00000368008
  gene symbol: NIT1
  hgvsc: ENST00000368008.1:c.99-13A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000486962
  gene symbol: NIT1
  hgvsc: ENST00000486962.1:n.193-13A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496768
  gene symbol: NIT1
  hgvsc: ENST00000496768.1:n.172-13A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000479266
  gene symbol: NIT1
  hgvsc: ENST00000479266.1:n.75-13A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000473918
  gene symbol: NIT1
  hgvsc: ENST00000473918.1:n.116-13A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000376028
  ensembl transcript: ENST00000392190
  gene symbol: NIT1
  hgvsc: ENST00000392190.5:c.-10-13A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356986
  ensembl transcript: ENST00000368007
  gene symbol: NIT1
  hgvsc: ENST00000368007.4:c.54-13A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000485594
  gene symbol: NIT1
  hgvsc: ENST00000485594.1:n.97-13A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000478277
  gene symbol: NIT1
  hgvsc: ENST00000478277.1:n.197-13A>G
  variant of: http://identifiers.org/hgnc/7828
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5567
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 6.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 4824
  bin: 5.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 6.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 6183
  bin: 5.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 9.75e1
  variant carriers: 192
genotype depth: GenotypeDepth
  all individuals: 7250
  bin: 4.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7699
  bin: 4.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
num of homozygotes: 7
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

1-161088914-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161088914
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161088914
    reference: chr 1
allele count: 6
allele frequency: 4.951393817359587e-5
allele num: 121178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000461376
  gene symbol: NIT1
  hgvsc: ENST00000461376.1:n.217C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356988
  ensembl transcript: ENST00000368009
  gene symbol: NIT1
  hgvsc: ENST00000368009.2:c.99-10C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000486962
  gene symbol: NIT1
  hgvsc: ENST00000486962.1:n.193-10C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356987
  ensembl transcript: ENST00000368008
  gene symbol: NIT1
  hgvsc: ENST00000368008.1:c.99-10C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000491497
  gene symbol: NIT1
  hgvsc: ENST00000491497.1:n.502-10C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000376028
  ensembl transcript: ENST00000392190
  gene symbol: NIT1
  hgvsc: ENST00000392190.5:c.-10-10C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000477684
  gene symbol: NIT1
  hgvsc: ENST00000477684.1:n.68-10C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356986
  ensembl transcript: ENST00000368007
  gene symbol: NIT1
  hgvsc: ENST00000368007.4:c.54-10C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000473918
  gene symbol: NIT1
  hgvsc: ENST00000473918.1:n.116-10C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000485594
  gene symbol: NIT1
  hgvsc: ENST00000485594.1:n.97-10C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496768
  gene symbol: NIT1
  hgvsc: ENST00000496768.1:n.172-10C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000492411
  gene symbol: NIT1
  hgvsc: ENST00000492411.1:n.205-10C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000479266
  gene symbol: NIT1
  hgvsc: ENST00000479266.1:n.75-10C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496861
  gene symbol: NIT1
  hgvsc: ENST00000496861.1:n.663-10C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000478277
  gene symbol: NIT1
  hgvsc: ENST00000478277.1:n.197-10C>T
  variant of: http://identifiers.org/hgnc/7828
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

1-161088918-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161088918
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161088918
    reference: chr 1
allele count: 13
allele frequency: 1.072253381722204e-4
allele num: 121240
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000477684
  gene symbol: NIT1
  hgvsc: ENST00000477684.1:n.68-6T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000485594
  gene symbol: NIT1
  hgvsc: ENST00000485594.1:n.97-6T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000492411
  gene symbol: NIT1
  hgvsc: ENST00000492411.1:n.205-6T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000473918
  gene symbol: NIT1
  hgvsc: ENST00000473918.1:n.116-6T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000479266
  gene symbol: NIT1
  hgvsc: ENST00000479266.1:n.75-6T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496861
  gene symbol: NIT1
  hgvsc: ENST00000496861.1:n.663-6T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356987
  ensembl transcript: ENST00000368008
  gene symbol: NIT1
  hgvsc: ENST00000368008.1:c.99-6T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000478277
  gene symbol: NIT1
  hgvsc: ENST00000478277.1:n.197-6T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000491497
  gene symbol: NIT1
  hgvsc: ENST00000491497.1:n.502-6T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000461376
  gene symbol: NIT1
  hgvsc: ENST00000461376.1:n.221T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000376028
  ensembl transcript: ENST00000392190
  gene symbol: NIT1
  hgvsc: ENST00000392190.5:c.-10-6T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000486962
  gene symbol: NIT1
  hgvsc: ENST00000486962.1:n.193-6T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356986
  ensembl transcript: ENST00000368007
  gene symbol: NIT1
  hgvsc: ENST00000368007.4:c.54-6T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496768
  gene symbol: NIT1
  hgvsc: ENST00000496768.1:n.172-6T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356988
  ensembl transcript: ENST00000368009
  gene symbol: NIT1
  hgvsc: ENST00000368009.2:c.99-6T>C
  variant of: http://identifiers.org/hgnc/7828
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.99-6T>C
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

1-161088920-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161088920
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161088920
    reference: chr 1
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000485594
  gene symbol: NIT1
  hgvsc: ENST00000485594.1:n.97-4A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496768
  gene symbol: NIT1
  hgvsc: ENST00000496768.1:n.172-4A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000478277
  gene symbol: NIT1
  hgvsc: ENST00000478277.1:n.197-4A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496861
  gene symbol: NIT1
  hgvsc: ENST00000496861.1:n.663-4A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356988
  ensembl transcript: ENST00000368009
  gene symbol: NIT1
  hgvsc: ENST00000368009.2:c.99-4A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000491497
  gene symbol: NIT1
  hgvsc: ENST00000491497.1:n.502-4A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000473918
  gene symbol: NIT1
  hgvsc: ENST00000473918.1:n.116-4A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000486962
  gene symbol: NIT1
  hgvsc: ENST00000486962.1:n.193-4A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000477684
  gene symbol: NIT1
  hgvsc: ENST00000477684.1:n.68-4A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000376028
  ensembl transcript: ENST00000392190
  gene symbol: NIT1
  hgvsc: ENST00000392190.5:c.-10-4A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356987
  ensembl transcript: ENST00000368008
  gene symbol: NIT1
  hgvsc: ENST00000368008.1:c.99-4A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000479266
  gene symbol: NIT1
  hgvsc: ENST00000479266.1:n.75-4A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000461376
  gene symbol: NIT1
  hgvsc: ENST00000461376.1:n.223A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000492411
  gene symbol: NIT1
  hgvsc: ENST00000492411.1:n.205-4A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356986
  ensembl transcript: ENST00000368007
  gene symbol: NIT1
  hgvsc: ENST00000368007.4:c.54-4A>G
  variant of: http://identifiers.org/hgnc/7828
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.99-4A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/1-161088926-CCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161088926
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161088924
    reference: chr 1
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356987
  ensembl transcript: ENST00000368008
  gene symbol: NIT1
  hgvsc: ENST00000368008.1:c.102_103delCA
  hgvsp: ENSP00000356987.1:p.Arg35SerfsTer30
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496768
  gene symbol: NIT1
  hgvsc: ENST00000496768.1:n.175_176delCA
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496861
  gene symbol: NIT1
  hgvsc: ENST00000496861.1:n.666_667delCA
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356986
  ensembl transcript: ENST00000368007
  gene symbol: NIT1
  hgvsc: ENST00000368007.4:c.57_58delCA
  hgvsp: ENSP00000356986.4:p.Arg20SerfsTer30
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000473918
  gene symbol: NIT1
  hgvsc: ENST00000473918.1:n.119_120delCA
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000478277
  gene symbol: NIT1
  hgvsc: ENST00000478277.1:n.200_201delCA
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000485594
  gene symbol: NIT1
  hgvsc: ENST00000485594.1:n.100_101delCA
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356988
  ensembl transcript: ENST00000368009
  gene symbol: NIT1
  hgvsc: ENST00000368009.2:c.102_103delCA
  hgvsp: ENSP00000356988.2:p.Arg35SerfsTer30
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000461376
  gene symbol: NIT1
  hgvsc: ENST00000461376.1:n.230_231delCA
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000486962
  gene symbol: NIT1
  hgvsc: ENST00000486962.1:n.196_197delCA
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000376028
  ensembl transcript: ENST00000392190
  gene symbol: NIT1
  hgvsc: ENST00000392190.5:c.-7_-6delCA
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000492411
  gene symbol: NIT1
  hgvsc: ENST00000492411.1:n.208_209delCA
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000477684
  gene symbol: NIT1
  hgvsc: ENST00000477684.1:n.71_72delCA
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000479266
  gene symbol: NIT1
  hgvsc: ENST00000479266.1:n.78_79delCA
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000491497
  gene symbol: NIT1
  hgvsc: ENST00000491497.1:n.505_506delCA
  variant of: http://identifiers.org/hgnc/7828
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 6477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7215
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg35SerfsTer30
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: CCA
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

1-161088936-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161088936
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161088936
    reference: chr 1
allele count: 23
allele frequency: 1.89543776371308e-4
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000376028
  ensembl transcript: ENST00000392190
  gene symbol: NIT1
  hgvsc: ENST00000392190.5:c.3G>A
  hgvsp: ENSP00000376028.5:p.Met1?
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000479266
  gene symbol: NIT1
  hgvsc: ENST00000479266.1:n.87G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000486962
  gene symbol: NIT1
  hgvsc: ENST00000486962.1:n.205G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000491497
  gene symbol: NIT1
  hgvsc: ENST00000491497.1:n.514G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496861
  gene symbol: NIT1
  hgvsc: ENST00000496861.1:n.675G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000461376
  gene symbol: NIT1
  hgvsc: ENST00000461376.1:n.239G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000485594
  gene symbol: NIT1
  hgvsc: ENST00000485594.1:n.109G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000473918
  gene symbol: NIT1
  hgvsc: ENST00000473918.1:n.128G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000492411
  gene symbol: NIT1
  hgvsc: ENST00000492411.1:n.217G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356988
  ensembl transcript: ENST00000368009
  gene symbol: NIT1
  hgvsc: ENST00000368009.2:c.111G>A
  hgvsp: ENSP00000356988.2:p.Met37Ile
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000477684
  gene symbol: NIT1
  hgvsc: ENST00000477684.1:n.80G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356986
  ensembl transcript: ENST00000368007
  gene symbol: NIT1
  hgvsc: ENST00000368007.4:c.66G>A
  hgvsp: ENSP00000356986.4:p.Met22Ile
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356987
  ensembl transcript: ENST00000368008
  gene symbol: NIT1
  hgvsc: ENST00000368008.1:c.111G>A
  hgvsp: ENSP00000356987.1:p.Met37Ile
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496768
  gene symbol: NIT1
  hgvsc: ENST00000496768.1:n.184G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000478277
  gene symbol: NIT1
  hgvsc: ENST00000478277.1:n.209G>A
  variant of: http://identifiers.org/hgnc/7828
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7228
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4555
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7792
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7314
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5812
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

1-161088939-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161088939
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161088939
    reference: chr 1
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000491497
  gene symbol: NIT1
  hgvsc: ENST00000491497.1:n.517T>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000485594
  gene symbol: NIT1
  hgvsc: ENST00000485594.1:n.112T>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000492411
  gene symbol: NIT1
  hgvsc: ENST00000492411.1:n.220T>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000473918
  gene symbol: NIT1
  hgvsc: ENST00000473918.1:n.131T>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496861
  gene symbol: NIT1
  hgvsc: ENST00000496861.1:n.678T>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000486962
  gene symbol: NIT1
  hgvsc: ENST00000486962.1:n.208T>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000479266
  gene symbol: NIT1
  hgvsc: ENST00000479266.1:n.90T>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356987
  ensembl transcript: ENST00000368008
  gene symbol: NIT1
  hgvsc: ENST00000368008.1:c.114T>G
  hgvsp: ENST00000368008.1:c.114T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356988
  ensembl transcript: ENST00000368009
  gene symbol: NIT1
  hgvsc: ENST00000368009.2:c.114T>G
  hgvsp: ENST00000368009.2:c.114T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000376028
  ensembl transcript: ENST00000392190
  gene symbol: NIT1
  hgvsc: ENST00000392190.5:c.6T>G
  hgvsp: ENST00000392190.5:c.6T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000478277
  gene symbol: NIT1
  hgvsc: ENST00000478277.1:n.212T>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000477684
  gene symbol: NIT1
  hgvsc: ENST00000477684.1:n.83T>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356986
  ensembl transcript: ENST00000368007
  gene symbol: NIT1
  hgvsc: ENST00000368007.4:c.69T>G
  hgvsp: ENST00000368007.4:c.69T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000461376
  gene symbol: NIT1
  hgvsc: ENST00000461376.1:n.242T>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496768
  gene symbol: NIT1
  hgvsc: ENST00000496768.1:n.187T>G
  variant of: http://identifiers.org/hgnc/7828
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4854
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5830
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala38Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

1-161088939-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161088939
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161088939
    reference: chr 1
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000477684
  gene symbol: NIT1
  hgvsc: ENST00000477684.1:n.83T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000376028
  ensembl transcript: ENST00000392190
  gene symbol: NIT1
  hgvsc: ENST00000392190.5:c.6T>C
  hgvsp: ENST00000392190.5:c.6T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496861
  gene symbol: NIT1
  hgvsc: ENST00000496861.1:n.678T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000486962
  gene symbol: NIT1
  hgvsc: ENST00000486962.1:n.208T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000479266
  gene symbol: NIT1
  hgvsc: ENST00000479266.1:n.90T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496768
  gene symbol: NIT1
  hgvsc: ENST00000496768.1:n.187T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000485594
  gene symbol: NIT1
  hgvsc: ENST00000485594.1:n.112T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000491497
  gene symbol: NIT1
  hgvsc: ENST00000491497.1:n.517T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000461376
  gene symbol: NIT1
  hgvsc: ENST00000461376.1:n.242T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356988
  ensembl transcript: ENST00000368009
  gene symbol: NIT1
  hgvsc: ENST00000368009.2:c.114T>C
  hgvsp: ENST00000368009.2:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000473918
  gene symbol: NIT1
  hgvsc: ENST00000473918.1:n.131T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356986
  ensembl transcript: ENST00000368007
  gene symbol: NIT1
  hgvsc: ENST00000368007.4:c.69T>C
  hgvsp: ENST00000368007.4:c.69T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000492411
  gene symbol: NIT1
  hgvsc: ENST00000492411.1:n.220T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000478277
  gene symbol: NIT1
  hgvsc: ENST00000478277.1:n.212T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356987
  ensembl transcript: ENST00000368008
  gene symbol: NIT1
  hgvsc: ENST00000368008.1:c.114T>C
  hgvsp: ENST00000368008.1:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7828
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5830
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7317
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala38Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/1-161088940-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161088940
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161088940
    reference: chr 1
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496861
  gene symbol: NIT1
  hgvsc: ENST00000496861.1:n.679A>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356986
  ensembl transcript: ENST00000368007
  gene symbol: NIT1
  hgvsc: ENST00000368007.4:c.70A>C
  hgvsp: ENSP00000356986.4:p.Ile24Leu
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496768
  gene symbol: NIT1
  hgvsc: ENST00000496768.1:n.188A>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356988
  ensembl transcript: ENST00000368009
  gene symbol: NIT1
  hgvsc: ENST00000368009.2:c.115A>C
  hgvsp: ENSP00000356988.2:p.Ile39Leu
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000491497
  gene symbol: NIT1
  hgvsc: ENST00000491497.1:n.518A>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000478277
  gene symbol: NIT1
  hgvsc: ENST00000478277.1:n.213A>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000473918
  gene symbol: NIT1
  hgvsc: ENST00000473918.1:n.132A>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000477684
  gene symbol: NIT1
  hgvsc: ENST00000477684.1:n.84A>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000479266
  gene symbol: NIT1
  hgvsc: ENST00000479266.1:n.91A>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356987
  ensembl transcript: ENST00000368008
  gene symbol: NIT1
  hgvsc: ENST00000368008.1:c.115A>C
  hgvsp: ENSP00000356987.1:p.Ile39Leu
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000485594
  gene symbol: NIT1
  hgvsc: ENST00000485594.1:n.113A>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000492411
  gene symbol: NIT1
  hgvsc: ENST00000492411.1:n.221A>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000376028
  ensembl transcript: ENST00000392190
  gene symbol: NIT1
  hgvsc: ENST00000392190.5:c.7A>C
  hgvsp: ENSP00000376028.5:p.Ile3Leu
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000461376
  gene symbol: NIT1
  hgvsc: ENST00000461376.1:n.243A>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000486962
  gene symbol: NIT1
  hgvsc: ENST00000486962.1:n.209A>C
  variant of: http://identifiers.org/hgnc/7828
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6230
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile39Leu
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

1-161088940-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161088940
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161088940
    reference: chr 1
allele count: 12
allele frequency: 9.888262632255513e-5
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356987
  ensembl transcript: ENST00000368008
  gene symbol: NIT1
  hgvsc: ENST00000368008.1:c.115A>G
  hgvsp: ENSP00000356987.1:p.Ile39Val
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000492411
  gene symbol: NIT1
  hgvsc: ENST00000492411.1:n.221A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496768
  gene symbol: NIT1
  hgvsc: ENST00000496768.1:n.188A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000376028
  ensembl transcript: ENST00000392190
  gene symbol: NIT1
  hgvsc: ENST00000392190.5:c.7A>G
  hgvsp: ENSP00000376028.5:p.Ile3Val
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000486962
  gene symbol: NIT1
  hgvsc: ENST00000486962.1:n.209A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000485594
  gene symbol: NIT1
  hgvsc: ENST00000485594.1:n.113A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356986
  ensembl transcript: ENST00000368007
  gene symbol: NIT1
  hgvsc: ENST00000368007.4:c.70A>G
  hgvsp: ENSP00000356986.4:p.Ile24Val
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000461376
  gene symbol: NIT1
  hgvsc: ENST00000461376.1:n.243A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000473918
  gene symbol: NIT1
  hgvsc: ENST00000473918.1:n.132A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496861
  gene symbol: NIT1
  hgvsc: ENST00000496861.1:n.679A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000477684
  gene symbol: NIT1
  hgvsc: ENST00000477684.1:n.84A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356988
  ensembl transcript: ENST00000368009
  gene symbol: NIT1
  hgvsc: ENST00000368009.2:c.115A>G
  hgvsp: ENSP00000356988.2:p.Ile39Val
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000491497
  gene symbol: NIT1
  hgvsc: ENST00000491497.1:n.518A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000479266
  gene symbol: NIT1
  hgvsc: ENST00000479266.1:n.91A>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000478277
  gene symbol: NIT1
  hgvsc: ENST00000478277.1:n.213A>G
  variant of: http://identifiers.org/hgnc/7828
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7797
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7233
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6230
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ile39Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

1-161088941-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161088941
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161088941
    reference: chr 1
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000491497
  gene symbol: NIT1
  hgvsc: ENST00000491497.1:n.519T>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000477684
  gene symbol: NIT1
  hgvsc: ENST00000477684.1:n.85T>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356987
  ensembl transcript: ENST00000368008
  gene symbol: NIT1
  hgvsc: ENST00000368008.1:c.116T>G
  hgvsp: ENSP00000356987.1:p.Ile39Ser
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356988
  ensembl transcript: ENST00000368009
  gene symbol: NIT1
  hgvsc: ENST00000368009.2:c.116T>G
  hgvsp: ENSP00000356988.2:p.Ile39Ser
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000473918
  gene symbol: NIT1
  hgvsc: ENST00000473918.1:n.133T>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000485594
  gene symbol: NIT1
  hgvsc: ENST00000485594.1:n.114T>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000486962
  gene symbol: NIT1
  hgvsc: ENST00000486962.1:n.210T>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000376028
  ensembl transcript: ENST00000392190
  gene symbol: NIT1
  hgvsc: ENST00000392190.5:c.8T>G
  hgvsp: ENSP00000376028.5:p.Ile3Ser
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000478277
  gene symbol: NIT1
  hgvsc: ENST00000478277.1:n.214T>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000492411
  gene symbol: NIT1
  hgvsc: ENST00000492411.1:n.222T>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496861
  gene symbol: NIT1
  hgvsc: ENST00000496861.1:n.680T>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356986
  ensembl transcript: ENST00000368007
  gene symbol: NIT1
  hgvsc: ENST00000368007.4:c.71T>G
  hgvsp: ENSP00000356986.4:p.Ile24Ser
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000479266
  gene symbol: NIT1
  hgvsc: ENST00000479266.1:n.92T>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000461376
  gene symbol: NIT1
  hgvsc: ENST00000461376.1:n.244T>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496768
  gene symbol: NIT1
  hgvsc: ENST00000496768.1:n.189T>G
  variant of: http://identifiers.org/hgnc/7828
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile39Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

1-161088941-TCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161088941
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161088938
    reference: chr 1
allele count: 10
allele frequency: 8.239947264337508e-5
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496768
  gene symbol: NIT1
  hgvsc: ENST00000496768.1:n.193_195delCTC
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356987
  ensembl transcript: ENST00000368008
  gene symbol: NIT1
  hgvsc: ENST00000368008.1:c.120_122delCTC
  hgvsp: ENSP00000356987.1:p.Ser43del
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000478277
  gene symbol: NIT1
  hgvsc: ENST00000478277.1:n.218_220delCTC
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000461376
  gene symbol: NIT1
  hgvsc: ENST00000461376.1:n.248_250delCTC
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000485594
  gene symbol: NIT1
  hgvsc: ENST00000485594.1:n.118_120delCTC
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000486962
  gene symbol: NIT1
  hgvsc: ENST00000486962.1:n.214_216delCTC
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496861
  gene symbol: NIT1
  hgvsc: ENST00000496861.1:n.684_686delCTC
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000491497
  gene symbol: NIT1
  hgvsc: ENST00000491497.1:n.523_525delCTC
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000376028
  ensembl transcript: ENST00000392190
  gene symbol: NIT1
  hgvsc: ENST00000392190.5:c.12_14delCTC
  hgvsp: ENSP00000376028.5:p.Ser7del
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000477684
  gene symbol: NIT1
  hgvsc: ENST00000477684.1:n.89_91delCTC
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356988
  ensembl transcript: ENST00000368009
  gene symbol: NIT1
  hgvsc: ENST00000368009.2:c.120_122delCTC
  hgvsp: ENSP00000356988.2:p.Ser43del
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000479266
  gene symbol: NIT1
  hgvsc: ENST00000479266.1:n.96_98delCTC
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356986
  ensembl transcript: ENST00000368007
  gene symbol: NIT1
  hgvsc: ENST00000368007.4:c.75_77delCTC
  hgvsp: ENSP00000356986.4:p.Ser28del
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000473918
  gene symbol: NIT1
  hgvsc: ENST00000473918.1:n.137_139delCTC
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000492411
  gene symbol: NIT1
  hgvsc: ENST00000492411.1:n.226_228delCTC
  variant of: http://identifiers.org/hgnc/7828
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7797
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7319
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4854
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser43del
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: TCTC
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP

1-161088943-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161088943
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161088943
    reference: chr 1
allele count: 6
allele frequency: 4.944212798918866e-5
allele num: 121354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000376028
  ensembl transcript: ENST00000392190
  gene symbol: NIT1
  hgvsc: ENST00000392190.5:c.10T>C
  hgvsp: ENSP00000376028.5:p.Ser4Pro
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000492411
  gene symbol: NIT1
  hgvsc: ENST00000492411.1:n.224T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000491497
  gene symbol: NIT1
  hgvsc: ENST00000491497.1:n.521T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496768
  gene symbol: NIT1
  hgvsc: ENST00000496768.1:n.191T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356988
  ensembl transcript: ENST00000368009
  gene symbol: NIT1
  hgvsc: ENST00000368009.2:c.118T>C
  hgvsp: ENSP00000356988.2:p.Ser40Pro
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000473918
  gene symbol: NIT1
  hgvsc: ENST00000473918.1:n.135T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000479266
  gene symbol: NIT1
  hgvsc: ENST00000479266.1:n.94T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000486962
  gene symbol: NIT1
  hgvsc: ENST00000486962.1:n.212T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000477684
  gene symbol: NIT1
  hgvsc: ENST00000477684.1:n.87T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000478277
  gene symbol: NIT1
  hgvsc: ENST00000478277.1:n.216T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000485594
  gene symbol: NIT1
  hgvsc: ENST00000485594.1:n.116T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356987
  ensembl transcript: ENST00000368008
  gene symbol: NIT1
  hgvsc: ENST00000368008.1:c.118T>C
  hgvsp: ENSP00000356987.1:p.Ser40Pro
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356986
  ensembl transcript: ENST00000368007
  gene symbol: NIT1
  hgvsc: ENST00000368007.4:c.73T>C
  hgvsp: ENSP00000356986.4:p.Ser25Pro
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000461376
  gene symbol: NIT1
  hgvsc: ENST00000461376.1:n.246T>C
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496861
  gene symbol: NIT1
  hgvsc: ENST00000496861.1:n.682T>C
  variant of: http://identifiers.org/hgnc/7828
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7318
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: p.Ser40Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

1-161088950-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161088950
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161088950
    reference: chr 1
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356987
  ensembl transcript: ENST00000368008
  gene symbol: NIT1
  hgvsc: ENST00000368008.1:c.125C>T
  hgvsp: ENSP00000356987.1:p.Ser42Phe
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496768
  gene symbol: NIT1
  hgvsc: ENST00000496768.1:n.198C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000486962
  gene symbol: NIT1
  hgvsc: ENST00000486962.1:n.219C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356988
  ensembl transcript: ENST00000368009
  gene symbol: NIT1
  hgvsc: ENST00000368009.2:c.125C>T
  hgvsp: ENSP00000356988.2:p.Ser42Phe
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000479266
  gene symbol: NIT1
  hgvsc: ENST00000479266.1:n.101C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000461376
  gene symbol: NIT1
  hgvsc: ENST00000461376.1:n.253C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000473918
  gene symbol: NIT1
  hgvsc: ENST00000473918.1:n.142C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496861
  gene symbol: NIT1
  hgvsc: ENST00000496861.1:n.689C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000477684
  gene symbol: NIT1
  hgvsc: ENST00000477684.1:n.94C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000492411
  gene symbol: NIT1
  hgvsc: ENST00000492411.1:n.231C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356986
  ensembl transcript: ENST00000368007
  gene symbol: NIT1
  hgvsc: ENST00000368007.4:c.80C>T
  hgvsp: ENSP00000356986.4:p.Ser27Phe
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000491497
  gene symbol: NIT1
  hgvsc: ENST00000491497.1:n.528C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000485594
  gene symbol: NIT1
  hgvsc: ENST00000485594.1:n.123C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000376028
  ensembl transcript: ENST00000392190
  gene symbol: NIT1
  hgvsc: ENST00000392190.5:c.17C>T
  hgvsp: ENSP00000376028.5:p.Ser6Phe
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000478277
  gene symbol: NIT1
  hgvsc: ENST00000478277.1:n.223C>T
  variant of: http://identifiers.org/hgnc/7828
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser42Phe
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

1-161088951-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161088951
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161088951
    reference: chr 1
allele count: 8
allele frequency: 6.59108884787767e-5
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000479266
  gene symbol: NIT1
  hgvsc: ENST00000479266.1:n.102C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000473918
  gene symbol: NIT1
  hgvsc: ENST00000473918.1:n.143C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000492411
  gene symbol: NIT1
  hgvsc: ENST00000492411.1:n.232C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000376028
  ensembl transcript: ENST00000392190
  gene symbol: NIT1
  hgvsc: ENST00000392190.5:c.18C>T
  hgvsp: ENST00000392190.5:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496768
  gene symbol: NIT1
  hgvsc: ENST00000496768.1:n.199C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356986
  ensembl transcript: ENST00000368007
  gene symbol: NIT1
  hgvsc: ENST00000368007.4:c.81C>T
  hgvsp: ENST00000368007.4:c.81C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000477684
  gene symbol: NIT1
  hgvsc: ENST00000477684.1:n.95C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000491497
  gene symbol: NIT1
  hgvsc: ENST00000491497.1:n.529C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356988
  ensembl transcript: ENST00000368009
  gene symbol: NIT1
  hgvsc: ENST00000368009.2:c.126C>T
  hgvsp: ENST00000368009.2:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000461376
  gene symbol: NIT1
  hgvsc: ENST00000461376.1:n.254C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356987
  ensembl transcript: ENST00000368008
  gene symbol: NIT1
  hgvsc: ENST00000368008.1:c.126C>T
  hgvsp: ENST00000368008.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000486962
  gene symbol: NIT1
  hgvsc: ENST00000486962.1:n.220C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000478277
  gene symbol: NIT1
  hgvsc: ENST00000478277.1:n.224C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000485594
  gene symbol: NIT1
  hgvsc: ENST00000485594.1:n.124C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496861
  gene symbol: NIT1
  hgvsc: ENST00000496861.1:n.690C>T
  variant of: http://identifiers.org/hgnc/7828
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7800
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6235
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser42Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-161088958-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161088958
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161088958
    reference: chr 1
allele count: 2
allele frequency: 1.64774506088418e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000478277
  gene symbol: NIT1
  hgvsc: ENST00000478277.1:n.231G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496861
  gene symbol: NIT1
  hgvsc: ENST00000496861.1:n.697G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496768
  gene symbol: NIT1
  hgvsc: ENST00000496768.1:n.206G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000486962
  gene symbol: NIT1
  hgvsc: ENST00000486962.1:n.227G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000492411
  gene symbol: NIT1
  hgvsc: ENST00000492411.1:n.239G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000376028
  ensembl transcript: ENST00000392190
  gene symbol: NIT1
  hgvsc: ENST00000392190.5:c.25G>A
  hgvsp: ENSP00000376028.5:p.Glu9Lys
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000485594
  gene symbol: NIT1
  hgvsc: ENST00000485594.1:n.131G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000491497
  gene symbol: NIT1
  hgvsc: ENST00000491497.1:n.536G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000477684
  gene symbol: NIT1
  hgvsc: ENST00000477684.1:n.102G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356986
  ensembl transcript: ENST00000368007
  gene symbol: NIT1
  hgvsc: ENST00000368007.4:c.88G>A
  hgvsp: ENSP00000356986.4:p.Glu30Lys
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356988
  ensembl transcript: ENST00000368009
  gene symbol: NIT1
  hgvsc: ENST00000368009.2:c.133G>A
  hgvsp: ENSP00000356988.2:p.Glu45Lys
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356987
  ensembl transcript: ENST00000368008
  gene symbol: NIT1
  hgvsc: ENST00000368008.1:c.133G>A
  hgvsp: ENSP00000356987.1:p.Glu45Lys
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000461376
  gene symbol: NIT1
  hgvsc: ENST00000461376.1:n.261G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000479266
  gene symbol: NIT1
  hgvsc: ENST00000479266.1:n.109G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000473918
  gene symbol: NIT1
  hgvsc: ENST00000473918.1:n.150G>A
  variant of: http://identifiers.org/hgnc/7828
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7325
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu45Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

1-161088961-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161088961
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161088961
    reference: chr 1
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356988
  ensembl transcript: ENST00000368009
  gene symbol: NIT1
  hgvsc: ENST00000368009.2:c.136C>G
  hgvsp: ENSP00000356988.2:p.Leu46Val
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496861
  gene symbol: NIT1
  hgvsc: ENST00000496861.1:n.700C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000376028
  ensembl transcript: ENST00000392190
  gene symbol: NIT1
  hgvsc: ENST00000392190.5:c.28C>G
  hgvsp: ENSP00000376028.5:p.Leu10Val
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000461376
  gene symbol: NIT1
  hgvsc: ENST00000461376.1:n.264C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000473918
  gene symbol: NIT1
  hgvsc: ENST00000473918.1:n.153C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000478277
  gene symbol: NIT1
  hgvsc: ENST00000478277.1:n.234C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000485594
  gene symbol: NIT1
  hgvsc: ENST00000485594.1:n.134C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000477684
  gene symbol: NIT1
  hgvsc: ENST00000477684.1:n.105C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356987
  ensembl transcript: ENST00000368008
  gene symbol: NIT1
  hgvsc: ENST00000368008.1:c.136C>G
  hgvsp: ENSP00000356987.1:p.Leu46Val
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356986
  ensembl transcript: ENST00000368007
  gene symbol: NIT1
  hgvsc: ENST00000368007.4:c.91C>G
  hgvsp: ENSP00000356986.4:p.Leu31Val
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000492411
  gene symbol: NIT1
  hgvsc: ENST00000492411.1:n.242C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000479266
  gene symbol: NIT1
  hgvsc: ENST00000479266.1:n.112C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496768
  gene symbol: NIT1
  hgvsc: ENST00000496768.1:n.209C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000491497
  gene symbol: NIT1
  hgvsc: ENST00000491497.1:n.539C>G
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000486962
  gene symbol: NIT1
  hgvsc: ENST00000486962.1:n.230C>G
  variant of: http://identifiers.org/hgnc/7828
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7237
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu46Val
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-110655180-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655180
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655180
    reference: chr 1
allele count: 1
allele frequency: 8.482627578718784e-6
allele num: 117888
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.24C>T
  hgvsp: ENST00000334179.3:c.24C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2838
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1819
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3838
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9863
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2784
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36447
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu8Leu
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8648
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65798
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

1-110655189-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655189
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655189
    reference: chr 1
allele count: 8
allele frequency: 6.711747235599107e-5
allele num: 119194
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.33G>C
  hgvsp: ENSP00000334044.3:p.Gln11His
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11046
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2860
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37213
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9954
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3839
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln11His
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11566
  num of homozygotes: 0
population: African
  type: Population
  allele count: 5
  allele frequency: 4.817883985353633e-4
  allele num: 10378
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-110655212-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655212
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655212
    reference: chr 1
allele count: 1
allele frequency: 8.269930532583527e-6
allele num: 120920
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.56G>A
  hgvsp: ENSP00000334044.3:p.Gly19Glu
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3831
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38457
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10115
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly19Glu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66550
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.155802126675913e-4
  allele num: 8652
  num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

1-110655215-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655215
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655215
    reference: chr 1
allele count: 2
allele frequency: 1.652400938563733e-5
allele num: 121036
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.59A>G
  hgvsp: ENSP00000334044.3:p.Gln20Arg
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 306
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genotype depth: GenotypeDepth
  all individuals: 170
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2859
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 399
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 33
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  variant carriers: 0
hgvs: p.Gln20Arg
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16312
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/1-110655220-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655220
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655220
    reference: chr 1
allele count: 1
allele frequency: 8.254366559910193e-6
allele num: 121148
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.64A>C
  hgvsp: ENSP00000334044.3:p.Ser22Arg
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 170
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 30
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1228
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  variant carriers: 0
hgvs: p.Ser22Arg
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16392
  num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

1-110655221-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655221
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655221
    reference: chr 1
allele count: 1
allele frequency: 8.253957772752034e-6
allele num: 121154
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.65G>A
  hgvsp: ENSP00000334044.3:p.Ser22Asn
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11854
  bin: 2.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 30
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hgvs: p.Ser22Asn
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8652
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11574
  num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

1-110655221-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655221
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655221
    reference: chr 1
allele count: 1
allele frequency: 8.253957772752034e-6
allele num: 121154
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.65G>C
  hgvsp: ENSP00000334044.3:p.Ser22Thr
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser22Thr
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10404
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 904
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD

1-110655222-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655222
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655222
    reference: chr 1
allele count: 1
allele frequency: 8.253140319891718e-6
allele num: 121166
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.66T>C
  hgvsp: ENST00000334179.3:c.66T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10147
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2862
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38658
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3824
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser22Ser
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66620
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16400
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

1-161088966-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161088966
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161088966
    reference: chr 1
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356987
  ensembl transcript: ENST00000368008
  gene symbol: NIT1
  hgvsc: ENST00000368008.1:c.141C>T
  hgvsp: ENST00000368008.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000478277
  gene symbol: NIT1
  hgvsc: ENST00000478277.1:n.239C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000477684
  gene symbol: NIT1
  hgvsc: ENST00000477684.1:n.110C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000376028
  ensembl transcript: ENST00000392190
  gene symbol: NIT1
  hgvsc: ENST00000392190.5:c.33C>T
  hgvsp: ENST00000392190.5:c.33C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000491497
  gene symbol: NIT1
  hgvsc: ENST00000491497.1:n.544C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000492411
  gene symbol: NIT1
  hgvsc: ENST00000492411.1:n.247C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356986
  ensembl transcript: ENST00000368007
  gene symbol: NIT1
  hgvsc: ENST00000368007.4:c.96C>T
  hgvsp: ENST00000368007.4:c.96C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496768
  gene symbol: NIT1
  hgvsc: ENST00000496768.1:n.214C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000461376
  gene symbol: NIT1
  hgvsc: ENST00000461376.1:n.269C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000485594
  gene symbol: NIT1
  hgvsc: ENST00000485594.1:n.139C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000479266
  gene symbol: NIT1
  hgvsc: ENST00000479266.1:n.117C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000486962
  gene symbol: NIT1
  hgvsc: ENST00000486962.1:n.235C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356988
  ensembl transcript: ENST00000368009
  gene symbol: NIT1
  hgvsc: ENST00000368009.2:c.141C>T
  hgvsp: ENST00000368009.2:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496861
  gene symbol: NIT1
  hgvsc: ENST00000496861.1:n.705C>T
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000473918
  gene symbol: NIT1
  hgvsc: ENST00000473918.1:n.158C>T
  variant of: http://identifiers.org/hgnc/7828
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro47Pro
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

1-161088976-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 161088976
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 161088976
    reference: chr 1
allele count: 2
allele frequency: 1.647527884409444e-5
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000473918
  gene symbol: NIT1
  hgvsc: ENST00000473918.1:n.168G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000461376
  gene symbol: NIT1
  hgvsc: ENST00000461376.1:n.279G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000376028
  ensembl transcript: ENST00000392190
  gene symbol: NIT1
  hgvsc: ENST00000392190.5:c.43G>A
  hgvsp: ENSP00000376028.5:p.Val15Met
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496768
  gene symbol: NIT1
  hgvsc: ENST00000496768.1:n.224G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356987
  ensembl transcript: ENST00000368008
  gene symbol: NIT1
  hgvsc: ENST00000368008.1:c.151G>A
  hgvsp: ENSP00000356987.1:p.Val51Met
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356988
  ensembl transcript: ENST00000368009
  gene symbol: NIT1
  hgvsc: ENST00000368009.2:c.151G>A
  hgvsp: ENSP00000356988.2:p.Val51Met
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000485594
  gene symbol: NIT1
  hgvsc: ENST00000485594.1:n.149G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000486962
  gene symbol: NIT1
  hgvsc: ENST00000486962.1:n.245G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000492411
  gene symbol: NIT1
  hgvsc: ENST00000492411.1:n.257G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000491497
  gene symbol: NIT1
  hgvsc: ENST00000491497.1:n.554G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000478277
  gene symbol: NIT1
  hgvsc: ENST00000478277.1:n.249G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000477684
  gene symbol: NIT1
  hgvsc: ENST00000477684.1:n.120G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000496861
  gene symbol: NIT1
  hgvsc: ENST00000496861.1:n.715G>A
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158793
  ensembl protein: ENSP00000356986
  ensembl transcript: ENST00000368007
  gene symbol: NIT1
  hgvsc: ENST00000368007.4:c.106G>A
  hgvsp: ENSP00000356986.4:p.Val36Met
  variant of: http://identifiers.org/hgnc/7828
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158793
  ensembl transcript: ENST00000479266
  gene symbol: NIT1
  hgvsc: ENST00000479266.1:n.127G>A
  variant of: http://identifiers.org/hgnc/7828
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6232
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val51Met
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

1-110655227-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655227
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655227
    reference: chr 1
allele count: 1
allele frequency: 8.24905548314718e-6
allele num: 121226
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.71C>T
  hgvsp: ENSP00000334044.3:p.Ala24Val
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11860
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13474
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2852
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3824
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38714
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10158
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala24Val
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11574
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66634
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

1-110655230-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655230
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655230
    reference: chr 1
allele count: 17
allele frequency: 1.401899986805647e-4
allele num: 121264
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.74C>T
  hgvsp: ENSP00000334044.3:p.Thr25Met
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13482
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10166
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3824
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38764
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2853
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr25Met
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 904
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66642
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

1-110655231-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655231
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655231
    reference: chr 1
allele count: 5
allele frequency: 4.122555324692458e-5
allele num: 121284
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.75G>A
  hgvsp: ENST00000334179.3:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13483
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38794
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2858
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3812
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Thr25Thr
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 904
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP

1-110655234-GAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655234
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655232
    reference: chr 1
allele count: 8
allele frequency: 6.594566077552098e-5
allele num: 121312
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.79_80delAA
  hgvsp: ENSP00000334044.3:p.Lys27GlufsTer11
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27066
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38815
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10170
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3810
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys27GlufsTer11
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 8
  allele frequency: 6.912044237083118e-4
  allele num: 11574
  num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: GAA
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

1-110655237-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655237
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655237
    reference: chr 1
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.81G>A
  hgvsp: ENST00000334179.3:c.81G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38836
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3802
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys27Lys
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11558
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.500060002400096e-5
  allele num: 66664
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

1-110655245-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655245
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655245
    reference: chr 1
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.89T>C
  hgvsp: ENSP00000334044.3:p.Val30Ala
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38829
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2857
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3802
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10171
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val30Ala
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11574
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

1-110655253-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655253
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655253
    reference: chr 1
allele count: 10
allele frequency: 8.241984669908514e-5
allele num: 121330
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.97C>T
  hgvsp: ENSP00000334044.3:p.Arg33Trp
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11874
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 10174
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 3798
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2850
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg33Trp
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10400
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 904
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

1-110655254-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655254
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655254
    reference: chr 1
allele count: 2
allele frequency: 1.64836976230508e-5
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.98G>A
  hgvsp: ENSP00000334044.3:p.Arg33Gln
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1526
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 252
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3789
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  variant carriers: 2
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 397
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1228
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2850
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hgvs: p.Arg33Gln
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.155802126675913e-4
  allele num: 8652
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10400
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

1-110655262-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655262
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655262
    reference: chr 1
allele count: 2
allele frequency: 1.648342591524222e-5
allele num: 121334
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.106G>A
  hgvsp: ENSP00000334044.3:p.Val36Met
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 304
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genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1232
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genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
hgvs: p.Val36Met
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8652
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

1-110655265-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655265
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655265
    reference: chr 1
allele count: 5
allele frequency: 4.120856478810556e-5
allele num: 121334
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.109C>T
  hgvsp: ENSP00000334044.3:p.Pro37Ser
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10172
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2845
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3784
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Pro37Ser
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 904
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10400
  num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-110655268-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655268
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655268
    reference: chr 1
allele count: 4
allele frequency: 3.29663084327817e-5
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.112G>A
  hgvsp: ENSP00000334044.3:p.Glu38Lys
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13478
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3780
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu38Lys
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11574
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 904
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-110655274-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655274
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655273
    reference: chr 1
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.119delA
  hgvsp: ENSP00000334044.3:p.Gln40ArgfsTer40
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2848
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln40ArgfsTer40
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: CA
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

1-110655277-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655277
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655277
    reference: chr 1
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.121C>T
  hgvsp: ENSP00000334044.3:p.Gln41Ter
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 10173
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  variant carriers: 0
hgvs: p.Gln41Ter
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10400
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ

1-110655279-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655279
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655279
    reference: chr 1
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.123G>A
  hgvsp: ENST00000334179.3:c.123G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln41Gln
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8652
  num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 9.615384615384615e-5
  allele num: 10400
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

1-110655286-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655286
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655286
    reference: chr 1
allele count: 3
allele frequency: 2.472839974282464e-5
allele num: 121318
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.130C>G
  hgvsp: ENSP00000334044.3:p.Leu44Val
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3774
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2847
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10168
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38840
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2843
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu44Val
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11574
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

1-110655292-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655292
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655292
    reference: chr 1
allele count: 21
allele frequency: 1.731045056629903e-4
allele num: 121314
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.136C>T
  hgvsp: ENSP00000334044.3:p.Arg46Cys
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2849
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38837
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2846
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3770
  bin: 9.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10170
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg46Cys
num of homozygotes: 1
population: European (Non-Finnish)
  type: Population
  allele count: 10
  allele frequency: 1.5001500150015e-4
  allele num: 66660
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 2
  allele frequency: 1.211240310077519e-4
  allele num: 16512
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

1-110655293-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655293
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655293
    reference: chr 1
allele count: 2
allele frequency: 1.648614339647526e-5
allele num: 121314
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.137G>A
  hgvsp: ENSP00000334044.3:p.Arg46His
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2847
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38848
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2845
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 20
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genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 10176
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genotype quality: GenotypeQuality
  all individuals: 405
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genotype quality: GenotypeQuality
  all individuals: 3751
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genotype quality: GenotypeQuality
  all individuals: 394
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg46His
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11574
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.000210014701029e-5
  allele num: 66662
  num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

1-110655294-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655294
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655294
    reference: chr 1
allele count: 3
allele frequency: 2.473003050037095e-5
allele num: 121310
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.138T>C
  hgvsp: ENST00000334179.3:c.138T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27107
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3748
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 2846
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 11
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genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg46Arg
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 904
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 3
  allele frequency: 4.500720115218435e-5
  allele num: 66656
  num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP

1-110655296-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655296
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655296
    reference: chr 1
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.140G>A
  hgvsp: ENSP00000334044.3:p.Gly47Asp
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 393
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly47Asp
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66654
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11574
  num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

1-110655298-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655298
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655298
    reference: chr 1
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.142C>T
  hgvsp: ENSP00000334044.3:p.Gln48Ter
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2848
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hgvs: p.Gln48Ter
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11574
  num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 9.617234083477592e-5
  allele num: 10398
  num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/1-110655301-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655301
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655301
    reference: chr 1
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.145C>A
  hgvsp: ENSP00000334044.3:p.Leu49Ile
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Leu49Ile
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10396
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

1-110655312-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655312
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655312
    reference: chr 1
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.156T>C
  hgvsp: ENST00000334179.3:c.156T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13473
  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Asp52Asp
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 904
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population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.056201550387597e-5
  allele num: 16512
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
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site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum

1-110655315-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655315
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655315
    reference: chr 1
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.159C>G
  hgvsp: ENSP00000334044.3:p.Asp53Glu
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3740
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2845
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2849
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38854
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10164
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp53Glu
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 904
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

1-110655319-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655319
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655319
    reference: chr 1
allele count: 2
allele frequency: 1.649049323065253e-5
allele num: 121282
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.163C>T
  hgvsp: ENSP00000334044.3:p.His55Tyr
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 27122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11858
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 389
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genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 405
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  variant carriers: 0
hgvs: p.His55Tyr
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10396
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.00147072065312e-5
  allele num: 66634
  num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

1-110655337-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655337
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655337
    reference: chr 1
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.181A>G
  hgvsp: ENSP00000334044.3:p.Ile61Val
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 13457
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 39
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  variant carriers: 0
hgvs: p.Ile61Val
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10394
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.501681883709755e-5
  allele num: 66592
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

1-110655338-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655338
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655338
    reference: chr 1
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.182T>C
  hgvsp: ENSP00000334044.3:p.Ile61Thr
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11841
  bin: 2.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1218
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hgvs: p.Ile61Thr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

1-110655348-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655348
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655348
    reference: chr 1
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.192T>A
  hgvsp: ENSP00000334044.3:p.Asn64Lys
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27058
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 31
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  variant carriers: 0
hgvs: p.Asn64Lys
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

1-110655360-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655360
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655360
    reference: chr 1
allele count: 3
allele frequency: 2.47614645580904e-5
allele num: 121156
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.204T>C
  hgvsp: ENST00000334179.3:c.204T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10130
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3731
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 38695
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2833
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn68Asn
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8648
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

1-110655361-GTCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655361
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655358
    reference: chr 1
allele count: 2
allele frequency: 1.650791554550407e-5
allele num: 121154
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.210_212delCAT
  hgvsp: ENSP00000334044.3:p.Ile70del
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2831
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3729
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10132
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38685
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile70del
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10388
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: GTCA
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

1-110655379-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110655379
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110655379
    reference: chr 1
allele count: 1
allele frequency: 8.261458643138033e-6
allele num: 121044
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000186150
  ensembl protein: ENSP00000334044
  ensembl transcript: ENST00000334179
  gene symbol: UBL4B
  hgvsc: ENST00000334179.3:c.223G>C
  hgvsp: ENSP00000334044.3:p.Glu75Gln
  variant of: http://identifiers.org/hgnc/32309
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2818
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38507
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3724
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2824
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10101
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu75Gln
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10368
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.056935190793458e-5
  allele num: 16510
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum

GenotypeDepth
all individuals: 678
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1231
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2798
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 901
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 503
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1160
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3820
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1474
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5685
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2186
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4587
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4183
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13783
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24026
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3334
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2798
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.922337562475971e-4
allele num: 10404
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.335811e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.89e-1

QD
type: SiteQuality
SIO_000300: 2.222e1

FS
type: SiteQuality
SIO_000300: 1.086e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.585e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.19e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.256e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

GenotypeDepth
all individuals: 69
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 503
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1160
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 901
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5204
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5668
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 13691
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 24027
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2796
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4585
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4182
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2185
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3334
bin: 9.25e1
variant carriers: 0

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

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

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: 11570
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.98e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

QD
type: SiteQuality
SIO_000300: 1.295e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.691e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.335176e6

GenotypeDepth
all individuals: 901
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1230
bin: 9.75e1
variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 5634
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variant carriers: 0

GenotypeQuality
all individuals: 13394
bin: 6.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-1

DP
type: SiteQuality
SIO_000300: 2.333069e6

FS
type: SiteQuality
SIO_000300: 7.736e0

QD
type: SiteQuality
SIO_000300: 9.949999999999999e0

GenotypeDepth
all individuals: 1225
bin: 7.25e1
variant carriers: 407

GenotypeDepth
all individuals: 495
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variant carriers: 232

GenotypeDepth
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variant carriers: 404

GenotypeDepth
all individuals: 3015
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variant carriers: 522

GenotypeDepth
all individuals: 6712
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variant carriers: 265

GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 141
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6398

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3696
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variant carriers: 2

GenotypeQuality
all individuals: 1946
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variant carriers: 3

East Asian
type: Population
allele count: 366
allele frequency: 4.233171408743928e-2
allele num: 8646
num of homozygotes: 9

European (Non-Finnish)
type: Population
allele count: 4076
allele frequency: 6.112410773198968e-2
allele num: 66684
num of homozygotes: 142

Other
type: Population
allele count: 41
allele frequency: 4.515418502202643e-2
allele num: 908
num of homozygotes: 1

African
type: Population
allele count: 327
allele frequency: 3.142417835863925e-2
allele num: 10406
num of homozygotes: 7

European (Finnish)
type: Population
allele count: 259
allele frequency: 3.915935893559117e-2
allele num: 6614
num of homozygotes: 5

South Asian
type: Population
allele count: 1318
allele frequency: 7.985942801745032e-2
allele num: 16504
num of homozygotes: 65

Latino
type: Population
allele count: 261
allele frequency: 2.25700449671394e-2
allele num: 11564
num of homozygotes: 6

FS
type: SiteQuality
SIO_000300: 7.07e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.925e0

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

DP
type: SiteQuality
SIO_000300: 2.557411e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.51e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-1

QD
type: SiteQuality
SIO_000300: 1.374e1

GenotypeDepth
all individuals: 1
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variant carriers: 0

GenotypeDepth
all individuals: 5445
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
all individuals: 12691
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variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 11566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 3.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.58e0

DP
type: SiteQuality
SIO_000300: 2.380088e6

VQSLOD
type: SiteQuality
SIO_000300: -4.345e0

FS
type: SiteQuality
SIO_000300: 4.3343e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeDepth
all individuals: 10193
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5424
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variant carriers: 0

GenotypeDepth
all individuals: 583
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variant carriers: 0

GenotypeDepth
all individuals: 989
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 1259
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GenotypeQuality
all individuals: 310
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GenotypeQuality
all individuals: 389
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GenotypeQuality
all individuals: 580
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GenotypeQuality
all individuals: 11152
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 600
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 4
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3373
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GenotypeQuality
all individuals: 12
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.48e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.369197e6

MQ
type: SiteQuality
SIO_000300: 5.873e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.24e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.244e0

QD
type: SiteQuality
SIO_000300: 1.525e1

MQRankSum
type: SiteQuality
SIO_000300: -8.26e-1

GenotypeDepth
all individuals: 465
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1275
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variant carriers: 0

GenotypeDepth
all individuals: 58
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GenotypeDepth
all individuals: 3
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GenotypeDepth
all individuals: 402
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
all individuals: 10233
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.09e0

DP
type: SiteQuality
SIO_000300: 2.366849e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 1.286e1

MQ
type: SiteQuality
SIO_000300: 5.458e1

MQRankSum
type: SiteQuality
SIO_000300: -1.231e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.57e-1

GenotypeDepth
all individuals: 845
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1022
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variant carriers: 0

GenotypeDepth
all individuals: 334
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 7268
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GenotypeQuality
all individuals: 375
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GenotypeQuality
all individuals: 449
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 810
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1975
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16040
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507022725902707e-5
allele num: 66356
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 2.730843e6

FS
type: SiteQuality
SIO_000300: 2.165e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

GenotypeDepth
all individuals: 3413
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variant carriers: 1

GenotypeDepth
all individuals: 2263
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 16

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 39
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GenotypeQuality
all individuals: 561
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GenotypeQuality
all individuals: 13
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GenotypeQuality
all individuals: 650
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GenotypeQuality
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GenotypeQuality
all individuals: 711
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GenotypeQuality
all individuals: 1895
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 32

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66414
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 32
allele frequency: 3.699421965317919e-3
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.49e-1

QD
type: SiteQuality
SIO_000300: 1.396e1

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-2

FS
type: SiteQuality
SIO_000300: 6.49e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 2.732482e6

GenotypeDepth
all individuals: 1116
bin: 1.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1987
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505208019748329e-5
allele num: 66436
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16166
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

FS
type: SiteQuality
SIO_000300: 2.298e0

VQSLOD
type: SiteQuality
SIO_000300: 1.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.6e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

DP
type: SiteQuality
SIO_000300: 2.737321e6

QD
type: SiteQuality
SIO_000300: 1.569e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.61e-1

GenotypeDepth
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bin: 7.25e1
variant carriers: 10

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 51

GenotypeDepth
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variant carriers: 9

GenotypeDepth
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GenotypeDepth
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variant carriers: 5

GenotypeDepth
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variant carriers: 12

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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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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bin: 1.75e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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variant carriers: 206

GenotypeQuality
all individuals: 273
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66482
num of homozygotes: 0

Latino
type: Population
allele count: 10
allele frequency: 8.638562543192813e-4
allele num: 11576
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16246
num of homozygotes: 0

African
type: Population
allele count: 197
allele frequency: 1.897514929685995e-2
allele num: 10382
num of homozygotes: 2

QD
type: SiteQuality
SIO_000300: 1.222e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 4.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.39e-1

DP
type: SiteQuality
SIO_000300: 2.752727e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.824e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.02e-2

FS
type: SiteQuality
SIO_000300: 1.283e0

MQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.18e-1

GenotypeDepth
all individuals: 481
bin: 8.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
all individuals: 3356
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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
all individuals: 11
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GenotypeQuality
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GenotypeQuality
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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: 1955
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 6683
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GenotypeQuality
all individuals: 1992
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 35300
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 131
bin: 5.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00833308263891e-5
allele num: 66482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.283e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.18e-1

QD
type: SiteQuality
SIO_000300: 1.222e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.824e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.02e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

DP
type: SiteQuality
SIO_000300: 2.752727e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeDepth
all individuals: 7264
bin: 4.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 11

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66482
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 12
allele frequency: 7.367387033398821e-4
allele num: 16288
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

DP
type: SiteQuality
SIO_000300: 2.749448e6

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

VQSLOD
type: SiteQuality
SIO_000300: 2.32e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
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bin: 6.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 3

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.511685264835925e-5
allele num: 66494
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.7e-2

QD
type: SiteQuality
SIO_000300: 1.151e1

BaseQRankSum
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SIO_000300: -5.658e0

DP
type: SiteQuality
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GenotypeDepth
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variant carriers: 36

GenotypeDepth
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variant carriers: 4

GenotypeDepth
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variant carriers: 37

GenotypeDepth
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variant carriers: 18

GenotypeDepth
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variant carriers: 35

GenotypeDepth
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variant carriers: 36

GenotypeDepth
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variant carriers: 8

GenotypeDepth
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variant carriers: 47

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3233
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 35275
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variant carriers: 531

GenotypeQuality
all individuals: 33
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GenotypeQuality
all individuals: 2050
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GenotypeQuality
all individuals: 2020
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
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allele frequency: 1.828681424446583e-3
allele num: 10390
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 456
allele frequency: 6.84972661178874e-3
allele num: 66572
num of homozygotes: 6

Latino
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allele count: 23
allele frequency: 1.986869384934347e-3
allele num: 11576
num of homozygotes: 0

European (Finnish)
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allele count: 19
allele frequency: 2.872694284850318e-3
allele num: 6614
num of homozygotes: 0

South Asian
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allele count: 21
allele frequency: 1.278149726110773e-3
allele num: 16430
num of homozygotes: 1

Other
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allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

FS
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SIO_000300: 1.92e0

ClippingRankSum
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SIO_000300: -1.63e-1

MQRankSum
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SIO_000300: 2.18e-1

DP
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SIO_000300: 2.773112e6

ReadPosRankSum
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SIO_000300: 5.45e-1

VQSLOD
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BaseQRankSum
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SIO_000300: 3.79e0

MQ
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SIO_000300: 5.963e1

InbreedingCoeff
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SIO_000300: 1.47e-2

QD
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SIO_000300: 1.285e1

GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

East Asian
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allele count: 6
allele frequency: 6.933210076265311e-4
allele num: 8654
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

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

BaseQRankSum
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SIO_000300: -4.17e0

FS
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SIO_000300: 1.16e0

MQRankSum
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ClippingRankSum
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MQ
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SIO_000300: 5.976e1

QD
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VQSLOD
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InbreedingCoeff
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DP
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SIO_000300: 2.754736e6

ReadPosRankSum
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SIO_000300: -6.63e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 13

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: 11576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66616
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 13
allele frequency: 1.965527668581796e-3
allele num: 6614
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.85e0

InbreedingCoeff
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SIO_000300: 1.49e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.72e-1

BaseQRankSum
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SIO_000300: 3.55e0

FS
type: SiteQuality
SIO_000300: 5.56e-1

ClippingRankSum
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SIO_000300: -5.35e-1

QD
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SIO_000300: 1.54e1

DP
type: SiteQuality
SIO_000300: 2.756045e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500960614793468e-5
allele num: 66624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

European (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

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

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

ClippingRankSum
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SIO_000300: -1.89e0

MQ
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VQSLOD
type: SiteQuality
SIO_000300: -8.298e-1

MQRankSum
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ReadPosRankSum
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QD
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FS
type: SiteQuality
SIO_000300: 9.047000000000001e0

InbreedingCoeff
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SIO_000300: 2.13e-2

BaseQRankSum
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SIO_000300: -1.599e0

DP
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SIO_000300: 2.756363e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500555205426008e-5
allele num: 66642
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
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MQ
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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QD
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DP
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VQSLOD
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GenotypeDepth
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bin: 7.25e1
variant carriers: 3

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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East Asian
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Other
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 3.449310137972406e-4
allele num: 66680
num of homozygotes: 0

Latino
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MQ
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BaseQRankSum
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QD
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FS
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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DP
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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)
type: Population
allele count: 0
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African
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South Asian
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QD
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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MQRankSum
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BaseQRankSum
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VQSLOD
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FS
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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num of homozygotes: 0

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

South Asian
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allele num: 16512
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African
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Latino
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European (Finnish)
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East Asian
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Other
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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FS
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QD
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MQ
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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African
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East Asian
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European (Non-Finnish)
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Other
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MQ
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VQSLOD
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ReadPosRankSum
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FS
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MQRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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European (Finnish)
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ReadPosRankSum
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MQRankSum
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FS
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QD
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MQ
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DP
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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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VQSLOD
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FS
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MQ
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ReadPosRankSum
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DP
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MQRankSum
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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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African
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East Asian
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European (Non-Finnish)
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MQ
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MQRankSum
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QD
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VQSLOD
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FS
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BaseQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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European (Non-Finnish)
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East Asian
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InbreedingCoeff
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ClippingRankSum
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MQ
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QD
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FS
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DP
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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Other
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African
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Latino
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ReadPosRankSum
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FS
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BaseQRankSum
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MQ
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VQSLOD
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DP
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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QD
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GenotypeDepth
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Latino
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European (Finnish)
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African
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European (Non-Finnish)
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East Asian
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South Asian
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MQRankSum
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DP
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FS
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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QD
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InbreedingCoeff
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ClippingRankSum
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European (Finnish)
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South Asian
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Latino
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African
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FS
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QD
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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MQ
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DP
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European (Finnish)
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South Asian
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European (Non-Finnish)
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East Asian
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VQSLOD
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FS
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DP
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MQRankSum
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QD
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MQ
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InbreedingCoeff
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ReadPosRankSum
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African
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South Asian
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Latino
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FS
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MQ
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DP
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InbreedingCoeff
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MQRankSum
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QD
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VQSLOD
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East Asian
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African
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Latino
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European (Non-Finnish)
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FS
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InbreedingCoeff
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MQRankSum
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QD
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VQSLOD
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MQ
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DP
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African
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Latino
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European (Non-Finnish)
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East Asian
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VQSLOD
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InbreedingCoeff
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QD
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MQ
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MQRankSum
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ReadPosRankSum
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FS
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DP
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SIO_000300: 1.920503e6

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501276084671971e-5
allele num: 66610
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.947e1

MQRankSum
type: SiteQuality
SIO_000300: -6.16e-1

DP
type: SiteQuality
SIO_000300: 1.920563e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.03e-1

QD
type: SiteQuality
SIO_000300: 1.225e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.205e0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.099048548426445e-5
allele num: 16396
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66610
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.205e0

MQRankSum
type: SiteQuality
SIO_000300: -6.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

DP
type: SiteQuality
SIO_000300: 1.920563e6

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

QD
type: SiteQuality
SIO_000300: 1.225e1

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -8.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.74e-1

FS
type: SiteQuality
SIO_000300: 9.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 4.92e0

DP
type: SiteQuality
SIO_000300: 1.920648e6

VQSLOD
type: SiteQuality
SIO_000300: -1.545e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.119e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

GenotypeDepth
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bin: 3.25e1
variant carriers: 0

GenotypeDepth
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bin: 8.25e1
variant carriers: 0

GenotypeDepth
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bin: 2.75e1
variant carriers: 0

GenotypeDepth
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bin: 2.25e1
variant carriers: 0

GenotypeDepth
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bin: 5.25e1
variant carriers: 0

GenotypeDepth
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bin: 7.25e1
variant carriers: 0

GenotypeDepth
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bin: 6.75e1
variant carriers: 0

GenotypeDepth
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bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7237
bin: 3.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3630
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3437
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.37e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.02e-1

FS
type: SiteQuality
SIO_000300: 5.334e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.73e-1

DP
type: SiteQuality
SIO_000300: 2.760548e6

QD
type: SiteQuality
SIO_000300: 1.418e1

GenotypeDepth
all individuals: 4855
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5893
bin: 2.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 6528
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variant carriers: 0

GenotypeDepth
all individuals: 468
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1006
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7325
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 331
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 662
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2049
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2117
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3305
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7662
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3633
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3437
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35086
bin: 9.75e1
variant carriers: 2

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997332374186974e-5
allele num: 66726
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.534e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.412e0

DP
type: SiteQuality
SIO_000300: 2.760795e6

FS
type: SiteQuality
SIO_000300: 5.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

VQSLOD
type: SiteQuality
SIO_000300: 7.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.599e0

DP
type: SiteQuality
SIO_000300: 1.921504e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.326e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

MQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

MQ
type: SiteQuality
SIO_000300: 5.889e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.852e-1

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

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

African
type: Population
allele count: 17
allele frequency: 1.634301095943088e-3
allele num: 10402
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.16e-1

QD
type: SiteQuality
SIO_000300: 1.368e1

MQ
type: SiteQuality
SIO_000300: 5.949e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

MQRankSum
type: SiteQuality
SIO_000300: 8.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.51e-1

DP
type: SiteQuality
SIO_000300: 1.922587e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000570108320581e-5
allele num: 66654
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.923076923076923e-4
allele num: 10400
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South Asian
type: Population
allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

FS
type: SiteQuality
SIO_000300: 4.129e0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.11e-1

QD
type: SiteQuality
SIO_000300: 1.222e1

MQ
type: SiteQuality
SIO_000300: 5.96e1

DP
type: SiteQuality
SIO_000300: 1.9213e6

African
type: Population
allele count: 0
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allele num: 10402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.05e1

MQRankSum
type: SiteQuality
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ClippingRankSum
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DP
type: SiteQuality
SIO_000300: 1.921281e6

QD
type: SiteQuality
SIO_000300: 1.765e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e-1

African
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allele num: 10402
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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Other
type: Population
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South Asian
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East Asian
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

DP
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.944e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.292e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.194e0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 904
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
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allele num: 66670
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African
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.920998e6

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

Latino
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allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

European (Finnish)
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.999760019198464e-5
allele num: 66672
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East Asian
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allele frequency: 8.088745088976196e-4
allele num: 8654
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South Asian
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.53e-1

DP
type: SiteQuality
SIO_000300: 1.920935e6

European (Non-Finnish)
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South Asian
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allele frequency: 6.056201550387597e-5
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Other
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Latino
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European (Finnish)
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allele count: 0
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.072e0

MQ
type: SiteQuality
SIO_000300: 5.837e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.73e-1

DP
type: SiteQuality
SIO_000300: 1.920123e6

QD
type: SiteQuality
SIO_000300: 1.452e1

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

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

Other
type: Population
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African
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South Asian
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FS
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MQ
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
type: SiteQuality
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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DP
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QD
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East Asian
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allele frequency: 1.155802126675913e-4
allele num: 8652
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Latino
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allele num: 11574
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South Asian
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allele frequency: 2.422480620155039e-4
allele num: 16512
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European (Finnish)
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allele num: 6614
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European (Non-Finnish)
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FS
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QD
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ClippingRankSum
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MQ
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DP
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

BaseQRankSum
type: SiteQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele frequency: 5.99880023995201e-5
allele num: 66680
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South Asian
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East Asian
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allele frequency: 0.0e0
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African
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BaseQRankSum
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MQ
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VQSLOD
type: SiteQuality
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QD
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FS
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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DP
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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East Asian
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allele count: 0
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African
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Latino
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allele frequency: 8.640055296353897e-5
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66680
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Other
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VQSLOD
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ClippingRankSum
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 6.013e1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 1.919225e6

Latino
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allele frequency: 0.0e0
allele num: 11574
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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Other
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allele num: 904
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East Asian
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.55e-1

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

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.919134e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e-1

FS
type: SiteQuality
SIO_000300: 7.63e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.681e0

MQ
type: SiteQuality
SIO_000300: 5.884e1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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South Asian
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allele num: 16512
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Latino
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66680
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.724e1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.91e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -9.91e-1

DP
type: SiteQuality
SIO_000300: 1.919076e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

European (Non-Finnish)
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allele count: 3
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allele num: 66664
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African
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Other
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allele num: 904
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
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European (Finnish)
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allele count: 0
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allele num: 6614
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.476e0

VQSLOD
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.979e1

Latino
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allele count: 7
allele frequency: 6.048038707447727e-4
allele num: 11574
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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African
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allele count: 2
allele frequency: 1.923446816695518e-4
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East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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allele num: 904
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.13e-2

DP
type: SiteQuality
SIO_000300: 1.918657e6

European (Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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East Asian
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Other
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -4.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.66e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.35e-1

VQSLOD
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DP
type: SiteQuality
SIO_000300: 1.917444e6

South Asian
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allele num: 16512
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East Asian
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African
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Latino
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European (Finnish)
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.46e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
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SIO_000300: 1.917235e6

South Asian
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allele num: 16512
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Other
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allele num: 904
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African
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allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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QD
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DP
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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FS
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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East Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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FS
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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QD
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Latino
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allele num: 11574
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European (Non-Finnish)
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allele num: 66662
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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Other
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East Asian
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allele num: 8652
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FS
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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MQ
type: SiteQuality
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DP
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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European (Non-Finnish)
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African
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Latino
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East Asian
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European (Finnish)
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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DP
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ReadPosRankSum
type: SiteQuality
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FS
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BaseQRankSum
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VQSLOD
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QD
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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African
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European (Non-Finnish)
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allele frequency: 1.5004651441947e-5
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East Asian
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South Asian
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Latino
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allele num: 11574
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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MQ
type: SiteQuality
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ReadPosRankSum
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8648
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
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MQ
type: SiteQuality
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QD
type: SiteQuality
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele num: 11574
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Other
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East Asian
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South Asian
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QD
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
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DP
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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Latino
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10394
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.16e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.076e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.69e0

DP
type: SiteQuality
SIO_000300: 1.914004e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.88e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.032e0

VQSLOD
type: SiteQuality
SIO_000300: -3.414e0

QD
type: SiteQuality
SIO_000300: 3.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.147e0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66564
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.71e-2

MQRankSum
type: SiteQuality
SIO_000300: -6.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.34e0

DP
type: SiteQuality
SIO_000300: 1.913262e6

FS
type: SiteQuality
SIO_000300: 2.517e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-1

QD
type: SiteQuality
SIO_000300: 1.511e1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503262078710802e-5
allele num: 66522
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.925669170036588e-4
allele num: 10386
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 8.66e-1

DP
type: SiteQuality
SIO_000300: 1.912138e6

MQRankSum
type: SiteQuality
SIO_000300: -6.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

FS
type: SiteQuality
SIO_000300: 5.649999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.72e-1

QD
type: SiteQuality
SIO_000300: 1.356e1

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006704952043056e-5
allele num: 66518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.55e0

MQRankSum
type: SiteQuality
SIO_000300: -5.56e-1

FS
type: SiteQuality
SIO_000300: 4.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

MQ
type: SiteQuality
SIO_000300: 5.879e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.56e-1

QD
type: SiteQuality
SIO_000300: 1.788e1

DP
type: SiteQuality
SIO_000300: 1.911955e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -8.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e-1

FS
type: SiteQuality
SIO_000300: 2.689e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

DP
type: SiteQuality
SIO_000300: 1.908359e6

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1