19-54937945-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54937945
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54937945
    reference: chr 19
allele count: 1
allele frequency: 8.285416010737898e-6
allele num: 120694
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476757
  gene symbol: TTYH1
  hgvsc: ENST00000476757.1:n.532T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*652T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.189T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.734T>C
  hgvsp: ENSP00000365714.3:p.Val245Ala
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.734T>C
  hgvsp: ENSP00000301194.4:p.Val245Ala
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1644T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.881T>C
  hgvsp: ENSP00000375619.3:p.Val294Ala
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.734T>C
  hgvsp: ENSP00000365713.3:p.Val245Ala
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000402817
  ensembl transcript: ENST00000425969
  gene symbol: TTYH1
  hgvsc: ENST00000425969.1:c.*280T>C
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3157
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val245Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

19-54937948-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54937948
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54937948
    reference: chr 19
allele count: 1
allele frequency: 8.293799555452344e-6
allele num: 120572
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*652+3A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.881+3A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.189+3A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.734+3A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.734+3A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476757
  gene symbol: TTYH1
  hgvsc: ENST00000476757.1:n.532+3A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.734+3A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1644+3A>G
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23245
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3146
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4440
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.75e1
  variant carriers: 0
hgvs: c.734+3A>G
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-54937951-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54937951
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54937951
    reference: chr 19
allele count: 1
allele frequency: 8.298204268596276e-6
allele num: 120508
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.734+6T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476757
  gene symbol: TTYH1
  hgvsc: ENST00000476757.1:n.532+6T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*652+6T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.734+6T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.734+6T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1644+6T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.881+6T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.189+6T>C
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5988
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4432
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3361
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1878
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3144
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
hgvs: c.734+6T>C
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

19-54937960-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54937960
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54937960
    reference: chr 19
allele count: 1
allele frequency: 8.32209850035785e-6
allele num: 120162
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.734+15T>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.189+15T>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.734+15T>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.881+15T>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476757
  gene symbol: TTYH1
  hgvsc: ENST00000476757.1:n.532+15T>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*652+15T>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.734+15T>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1644+15T>A
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1867
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4346
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

19-54937963-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54937963
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54937963
    reference: chr 19
allele count: 1
allele frequency: 8.330556481172942e-6
allele num: 120040
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*652+18G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.734+18G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.881+18G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.734+18G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.734+18G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476757
  gene symbol: TTYH1
  hgvsc: ENST00000476757.1:n.532+18G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1644+18G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.189+18G>A
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5817
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22249
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2793
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3250
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

19-54937964-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54937964
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54937964
    reference: chr 19
allele count: 1
allele frequency: 8.337780149413021e-6
allele num: 119936
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.189+19G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.734+19G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*652+19G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1644+19G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.734+19G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.734+19G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476757
  gene symbol: TTYH1
  hgvsc: ENST00000476757.1:n.532+19G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.881+19G>C
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5773
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1580
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3216
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

19-54937969-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54937969
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54937969
    reference: chr 19
allele count: 2
allele frequency: 1.671067143477825e-5
allele num: 119684
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.189+24C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.734+24C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.734+24C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1644+24C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.881+24C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.734+24C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*652+24C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476757
  gene symbol: TTYH1
  hgvsc: ENST00000476757.1:n.532+24C>T
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3555
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5635
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2801
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7922
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4178
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2398
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

19-54937972-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54937972
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54937972
    reference: chr 19
allele count: 1
allele frequency: 8.357570287166115e-6
allele num: 119652
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.734+27G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476757
  gene symbol: TTYH1
  hgvsc: ENST00000476757.1:n.532+27G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*652+27G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.734+27G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.734+27G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1644+27G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.881+27G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.189+27G>C
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20357
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13124
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7628
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3062
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP

19-54937976-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54937976
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54937976
    reference: chr 19
allele count: 1
allele frequency: 8.365680631776201e-6
allele num: 119536
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1644+31T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*652+31T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.734+31T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.189+31T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.881+31T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.734+31T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.734+31T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476757
  gene symbol: TTYH1
  hgvsc: ENST00000476757.1:n.532+31T>C
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7073
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23020
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2784
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

19-54937988-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54937988
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54937988
    reference: chr 19
allele count: 1
allele frequency: 8.423322495325057e-6
allele num: 118718
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476757
  gene symbol: TTYH1
  hgvsc: ENST00000476757.1:n.532+43C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.881+43C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*652+43C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.734+43C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.734+43C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.189+43C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1644+43C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.734+43C>G
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9757
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4674
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14931
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5181
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3765
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3578
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2056
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

19-54937993-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54937993
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54937993
    reference: chr 19
allele count: 1
allele frequency: 8.458662516282926e-6
allele num: 118222
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.734+48G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*652+48G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.189+48G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.734+48G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476757
  gene symbol: TTYH1
  hgvsc: ENST00000476757.1:n.532+48G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.881+48G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1644+48G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.734+48G>C
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9108
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9623
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3686
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3771
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6016
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4255
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

19-54940434-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940434
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940434
    reference: chr 19
allele count: 1
allele frequency: 8.326949338840222e-6
allele num: 120092
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476757
  gene symbol: TTYH1
  hgvsc: ENST00000476757.1:n.533-51C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1645-51C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*653-51C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.735-51C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.735-51C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.882-51C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.190-51C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.735-51C>G
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2671
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2182
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1885
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3872
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7402
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1952
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3639
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2818
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

19-54940437-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940437
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940437
    reference: chr 19
allele count: 1
allele frequency: 8.327920185212944e-6
allele num: 120078
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476757
  gene symbol: TTYH1
  hgvsc: ENST00000476757.1:n.533-48G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*653-48G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1645-48G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.735-48G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.190-48G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.735-48G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.735-48G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.882-48G>A
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5588
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4716
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3869
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3074
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum

19-54940443-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940443
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940443
    reference: chr 19
allele count: 3
allele frequency: 2.494968480231533e-5
allele num: 120242
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.190-42G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.735-42G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1645-42G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*653-42G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.882-42G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.735-42G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476757
  gene symbol: TTYH1
  hgvsc: ENST00000476757.1:n.533-42G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.735-42G>C
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3200
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3868
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4704
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3761
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7896
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3052
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-54940453-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940453
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940453
    reference: chr 19
allele count: 1
allele frequency: 8.310617645103384e-6
allele num: 120328
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476757
  gene symbol: TTYH1
  hgvsc: ENST00000476757.1:n.533-32A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.735-32A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*653-32A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.735-32A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1645-32A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.190-32A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.882-32A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.735-32A>G
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3769
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3868
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4704
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3720
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5586
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6366
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2831
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3844
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3073
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8433
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

19-54940457-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940457
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940457
    reference: chr 19
allele count: 14
allele frequency: 1.163003206565984e-4
allele num: 120378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476757
  gene symbol: TTYH1
  hgvsc: ENST00000476757.1:n.533-28C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.735-28C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.735-28C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.190-28C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.735-28C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.882-28C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1645-28C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*653-28C>T
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4704
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3716
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5591
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2846
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8611
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 1
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum

19-54940457-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940457
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940456
    reference: chr 19
allele count: 13
allele frequency: 1.079931548954128e-4
allele num: 120378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.882-25delG
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.735-25delG
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476757
  gene symbol: TTYH1
  hgvsc: ENST00000476757.1:n.533-25delG
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*653-25delG
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.735-25delG
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1645-25delG
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.190-25delG
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.735-25delG
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5591
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2636
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4704
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3716
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1666
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3871
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2846
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: CG
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

19-54940458-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940458
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940458
    reference: chr 19
allele count: 1
allele frequency: 8.306475728477921e-6
allele num: 120388
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.735-27G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476757
  gene symbol: TTYH1
  hgvsc: ENST00000476757.1:n.533-27G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*653-27G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.882-27G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.735-27G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.735-27G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1645-27G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.190-27G>A
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4704
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3714
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7630
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5592
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3109
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum

19-54940471-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940471
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940471
    reference: chr 19
allele count: 24568
allele frequency: 2.031924571995699e-1
allele num: 120910
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.882-14C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1645-14C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.735-14C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*653-14C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476757
  gene symbol: TTYH1
  hgvsc: ENST00000476757.1:n.533-14C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.190-14C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.735-14C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.735-14C>T
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 9.25e1
  variant carriers: 1020
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 5.75e1
  variant carriers: 479
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 7.25e1
  variant carriers: 616
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 5.25e1
  variant carriers: 479
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 6.25e1
  variant carriers: 501
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.25e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 4.75e1
  variant carriers: 492
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 2.25e1
  variant carriers: 245
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 8.75e1
  variant carriers: 916
genotype depth: GenotypeDepth
  all individuals: 5513
  bin: 4.25e1
  variant carriers: 488
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 174
genotype depth: GenotypeDepth
  all individuals: 6220
  bin: 3.75e1
  variant carriers: 392
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 8.25e1
  variant carriers: 814
genotype depth: GenotypeDepth
  all individuals: 6499
  bin: 2.75e1
  variant carriers: 304
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 7.75e1
  variant carriers: 714
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 6.75e1
  variant carriers: 517
genotype depth: GenotypeDepth
  all individuals: 7252
  bin: 3.25e1
  variant carriers: 338
genotype depth: GenotypeDepth
  all individuals: 13439
  bin: 9.75e1
  variant carriers: 13244
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 2765
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

19-54940472-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940472
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940472
    reference: chr 19
allele count: 1
allele frequency: 8.275953389830508e-6
allele num: 120832
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.882-13T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.735-13T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476757
  gene symbol: TTYH1
  hgvsc: ENST00000476757.1:n.533-13T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.190-13T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.735-13T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*653-13T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1645-13T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.735-13T>C
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4046
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2659
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4110
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

19-54940474-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940474
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940474
    reference: chr 19
allele count: 1
allele frequency: 8.274583788435442e-6
allele num: 120852
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*653-11C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476757
  gene symbol: TTYH1
  hgvsc: ENST00000476757.1:n.533-11C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1645-11C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.735-11C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.735-11C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.190-11C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.882-11C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.735-11C>G
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4511
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4108
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  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: 92
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/19-54940477-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940477
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940477
    reference: chr 19
allele count: 1
allele frequency: 8.274857672448034e-6
allele num: 120848
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*653-8C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1645-8C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.882-8C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.735-8C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.735-8C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476757
  gene symbol: TTYH1
  hgvsc: ENST00000476757.1:n.533-8C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.190-8C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.735-8C>A
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9476
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4514
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2924
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5552
  bin: 6.75e1
  variant carriers: 0
hgvs: c.735-8C>A
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum

19-54940477-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940477
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940477
    reference: chr 19
allele count: 1
allele frequency: 8.274857672448034e-6
allele num: 120848
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.190-8C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*653-8C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476757
  gene symbol: TTYH1
  hgvsc: ENST00000476757.1:n.533-8C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.882-8C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.735-8C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.735-8C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.735-8C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1645-8C>T
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2657
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5552
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4457
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4514
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
hgvs: c.735-8C>T
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

19-54940481-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940481
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940481
    reference: chr 19
allele count: 2
allele frequency: 1.65456079683648e-5
allele num: 120878
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.735-4C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.735-4C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.882-4C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476757
  gene symbol: TTYH1
  hgvsc: ENST00000476757.1:n.533-4C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*653-4C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.735-4C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.190-4C>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1645-4C>G
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7952
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4044
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5561
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12323
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.25e1
  variant carriers: 0
hgvs: c.735-4C>G
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD

19-54940491-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940491
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940491
    reference: chr 19
allele count: 1
allele frequency: 8.274309922552459e-6
allele num: 120856
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.741A>G
  hgvsp: ENST00000376531.3:c.741A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.888A>G
  hgvsp: ENST00000391739.3:c.888A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476757
  gene symbol: TTYH1
  hgvsc: ENST00000476757.1:n.539A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.741A>G
  hgvsp: ENST00000376530.3:c.741A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*659A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.196A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.741A>G
  hgvsp: ENST00000301194.4:c.741A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1651A>G
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10301
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4044
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7949
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2923
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2394
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23584
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Thr247Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

19-54940495-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940495
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940495
    reference: chr 19
allele count: 6
allele frequency: 4.965325477085023e-5
allele num: 120838
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*663A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.745A>G
  hgvsp: ENSP00000365714.3:p.Met249Val
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.892A>G
  hgvsp: ENSP00000375619.3:p.Met298Val
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.745A>G
  hgvsp: ENSP00000301194.4:p.Met249Val
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1655A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.745A>G
  hgvsp: ENSP00000365713.3:p.Met249Val
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.200A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476757
  gene symbol: TTYH1
  hgvsc: ENST00000476757.1:n.543A>G
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7948
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4044
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11374
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4449
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12369
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2921
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Met249Val
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

19-54940499-GTC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940499
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940497
    reference: chr 19
allele count: 1
allele frequency: 8.277049397430804e-6
allele num: 120816
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.752_753delTC
  hgvsp: ENSP00000365713.3:p.Leu251ProfsTer22
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.207_208delTC
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1662_1663delTC
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.899_900delTC
  hgvsp: ENSP00000375619.3:p.Leu300ProfsTer22
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476757
  gene symbol: TTYH1
  hgvsc: ENST00000476757.1:n.550_551delTC
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.752_753delTC
  hgvsp: ENSP00000365714.3:p.Leu251ProfsTer22
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.752_753delTC
  hgvsp: ENSP00000301194.4:p.Leu251ProfsTer22
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*670_*671delTC
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2651
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7948
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5551
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4445
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu251ProfsTer22
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: GTC
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

19-54940505-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940505
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940505
    reference: chr 19
allele count: 1
allele frequency: 8.279516476237788e-6
allele num: 120780
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476757
  gene symbol: TTYH1
  hgvsc: ENST00000476757.1:n.553T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.210T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.755T>C
  hgvsp: ENSP00000301194.4:p.Leu252Pro
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.755T>C
  hgvsp: ENSP00000365713.3:p.Leu252Pro
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*673T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.902T>C
  hgvsp: ENSP00000375619.3:p.Leu301Pro
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1665T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.755T>C
  hgvsp: ENSP00000365714.3:p.Leu252Pro
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9475
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7949
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2916
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu252Pro
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

19-54940512-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940512
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940512
    reference: chr 19
allele count: 5
allele frequency: 4.14181577203446e-5
allele num: 120720
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.762C>T
  hgvsp: ENST00000376531.3:c.762C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.762C>T
  hgvsp: ENST00000301194.4:c.762C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476757
  gene symbol: TTYH1
  hgvsc: ENST00000476757.1:n.560C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.909C>T
  hgvsp: ENST00000391739.3:c.909C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*680C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.217C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1672C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.762C>T
  hgvsp: ENST00000376530.3:c.762C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9470
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10252
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4495
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu254Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

19-54940513-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940513
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940513
    reference: chr 19
allele count: 5
allele frequency: 4.142982616044943e-5
allele num: 120686
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.763G>A
  hgvsp: ENSP00000365713.3:p.Val255Ile
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.763G>A
  hgvsp: ENSP00000365714.3:p.Val255Ile
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.763G>A
  hgvsp: ENSP00000301194.4:p.Val255Ile
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.218G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*681G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476757
  gene symbol: TTYH1
  hgvsc: ENST00000476757.1:n.561G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.910G>A
  hgvsp: ENSP00000375619.3:p.Val304Ile
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1673G>A
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4107
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4443
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2394
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val255Ile
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

19-54940514-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940514
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940514
    reference: chr 19
allele count: 4
allele frequency: 3.314331167970303e-5
allele num: 120688
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1674T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*682T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.911T>C
  hgvsp: ENSP00000375619.3:p.Val304Ala
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.764T>C
  hgvsp: ENSP00000301194.4:p.Val255Ala
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.764T>C
  hgvsp: ENSP00000365714.3:p.Val255Ala
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.219T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.764T>C
  hgvsp: ENSP00000365713.3:p.Val255Ala
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476757
  gene symbol: TTYH1
  hgvsc: ENST00000476757.1:n.562T>C
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3599
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6114
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9469
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7953
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4494
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12078
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val255Ala
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-54940531-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940531
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940531
    reference: chr 19
allele count: 3
allele frequency: 2.491570187532183e-5
allele num: 120406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.928A>G
  hgvsp: ENSP00000375619.3:p.Met310Val
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1691A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.781A>G
  hgvsp: ENSP00000301194.4:p.Met261Val
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.781A>G
  hgvsp: ENSP00000365713.3:p.Met261Val
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.781A>G
  hgvsp: ENSP00000365714.3:p.Met261Val
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000476757
  gene symbol: TTYH1
  hgvsc: ENST00000476757.1:n.579A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.236A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*699A>G
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4044
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11282
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6112
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4435
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5430
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Met261Val
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

19-54940532-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940532
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940532
    reference: chr 19
allele count: 6
allele frequency: 4.983719848494916e-5
allele num: 120392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.237T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*700T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.782T>C
  hgvsp: ENSP00000365714.3:p.Met261Thr
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.782T>C
  hgvsp: ENSP00000365713.3:p.Met261Thr
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1692T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.929T>C
  hgvsp: ENSP00000375619.3:p.Met310Thr
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.782T>C
  hgvsp: ENSP00000301194.4:p.Met261Thr
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23559
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 4103
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Met261Thr
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

19-54940534-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940534
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940534
    reference: chr 19
allele count: 1
allele frequency: 8.310203267571925e-6
allele num: 120334
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.784G>A
  hgvsp: ENSP00000365714.3:p.Gly262Ser
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*702G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.931G>A
  hgvsp: ENSP00000375619.3:p.Gly311Ser
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.784G>A
  hgvsp: ENSP00000301194.4:p.Gly262Ser
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.784G>A
  hgvsp: ENSP00000365713.3:p.Gly262Ser
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1694G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.239G>A
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11265
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9456
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2879
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11614
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4475
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly262Ser
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

19-54940542-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940542
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940542
    reference: chr 19
allele count: 5
allele frequency: 4.164861893179622e-5
allele num: 120052
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.792G>C
  hgvsp: ENSP00000365714.3:p.Glu264Asp
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.939G>C
  hgvsp: ENSP00000375619.3:p.Glu313Asp
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.247G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*710G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.792G>C
  hgvsp: ENSP00000365713.3:p.Glu264Asp
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1702G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.792G>C
  hgvsp: ENSP00000301194.4:p.Glu264Asp
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7949
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11181
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11111
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5310
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23557
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4460
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4426
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu264Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

19-54940543-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940543
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940543
    reference: chr 19
allele count: 1
allele frequency: 8.331944675887353e-6
allele num: 120020
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.793G>A
  hgvsp: ENSP00000301194.4:p.Ala265Thr
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.793G>A
  hgvsp: ENSP00000365714.3:p.Ala265Thr
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1703G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.248G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*711G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.793G>A
  hgvsp: ENSP00000365713.3:p.Ala265Thr
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.940G>A
  hgvsp: ENSP00000375619.3:p.Ala314Thr
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7948
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4425
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala265Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

19-54940550-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940550
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940550
    reference: chr 19
allele count: 2
allele frequency: 1.669226146758363e-5
allele num: 119816
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.800C>T
  hgvsp: ENSP00000365714.3:p.Thr267Met
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.255C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.800C>T
  hgvsp: ENSP00000365713.3:p.Thr267Met
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.800C>T
  hgvsp: ENSP00000301194.4:p.Thr267Met
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1710C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.947C>T
  hgvsp: ENSP00000375619.3:p.Thr316Met
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*718C>T
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4040
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10979
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5283
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr267Met
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff

19-54940551-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940551
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940551
    reference: chr 19
allele count: 1
allele frequency: 8.347384764353328e-6
allele num: 119798
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*719G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.948G>A
  hgvsp: ENST00000391739.3:c.948G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.801G>A
  hgvsp: ENST00000376530.3:c.801G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.801G>A
  hgvsp: ENST00000376531.3:c.801G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1711G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.256G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.801G>A
  hgvsp: ENST00000301194.4:c.801G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4040
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11063
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23547
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4421
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5286
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr267Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS

http://identifiers.org/exac.variant/19-54940554-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940554
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940554
    reference: chr 19
allele count: 1
allele frequency: 8.353939717970996e-6
allele num: 119704
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.804C>A
  hgvsp: ENST00000376531.3:c.804C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.259C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.804C>A
  hgvsp: ENST00000301194.4:c.804C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*722C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.804C>A
  hgvsp: ENST00000376530.3:c.804C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.951C>A
  hgvsp: ENST00000391739.3:c.951C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1714C>A
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7932
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4040
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2855
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23546
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4099
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala268Ala
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

19-54940554-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940554
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940554
    reference: chr 19
allele count: 7
allele frequency: 5.847757802579697e-5
allele num: 119704
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.804C>T
  hgvsp: ENST00000376531.3:c.804C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1714C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.951C>T
  hgvsp: ENST00000391739.3:c.951C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*722C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.804C>T
  hgvsp: ENST00000301194.4:c.804C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.804C>T
  hgvsp: ENST00000376530.3:c.804C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.259C>T
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6105
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4040
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11045
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7932
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11037
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4454
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4099
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5276
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala268Ala
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

19-54940564-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940564
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940564
    reference: chr 19
allele count: 1
allele frequency: 8.400114241553686e-6
allele num: 119046
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*725+7G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.954+7G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.807+7G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.807+7G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.262+7G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.807+7G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1717+7G>A
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6103
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2386
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4097
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
hgvs: c.807+7G>A
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

19-54940572-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940572
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940572
    reference: chr 19
allele count: 10
allele frequency: 8.420201748033882e-5
allele num: 118762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*725+15C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.807+15C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1717+15C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.262+15C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.807+15C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.807+15C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.954+15C>T
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9292
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9394
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10792
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4034
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6098
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5132
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1895
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4095
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2827
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

19-54940573-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940573
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940573
    reference: chr 19
allele count: 1
allele frequency: 8.432414200185513e-6
allele num: 118590
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.954+16G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*725+16G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.807+16G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.262+16G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.807+16G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1717+16G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.807+16G>A
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4033
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7899
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6097
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10745
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5088
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10079
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

19-54940579-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940579
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940579
    reference: chr 19
allele count: 5
allele frequency: 4.220335263433327e-5
allele num: 118474
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1717+22T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*725+22T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.807+22T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.954+22T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.807+22T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.807+22T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.262+22T>C
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7888
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2099
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4093
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2811
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

19-54940581-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940581
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940581
    reference: chr 19
allele count: 4
allele frequency: 3.379177508194505e-5
allele num: 118372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1717+24G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.807+24G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.807+24G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.954+24G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.262+24G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*725+24G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.807+24G>A
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10564
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7888
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4988
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4092
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9834
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

19-54940581-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940581
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940581
    reference: chr 19
allele count: 5
allele frequency: 4.223971885243132e-5
allele num: 118372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.807+24G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.954+24G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.807+24G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*725+24G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1717+24G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.807+24G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.262+24G>C
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10564
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7888
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2380
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4400
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP

19-54940594-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940594
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940592
    reference: chr 19
allele count: 1
allele frequency: 8.488676106074497e-6
allele num: 117804
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.807+38_807+39delAG
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.954+38_954+39delAG
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.262+38_262+39delAG
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1717+38_1717+39delAG
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*725+38_*725+39delAG
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.807+38_807+39delAG
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.807+38_807+39delAG
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7846
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6088
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8387
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4304
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 7.5e0
  variant carriers: 0
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: CAG
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

19-54940595-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940595
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940594
    reference: chr 19
allele count: 1
allele frequency: 8.495599279573181e-6
allele num: 117708
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.807+43delG
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.807+43delG
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.807+43delG
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*725+43delG
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.954+43delG
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.262+43delG
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1717+43delG
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8094
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6084
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8165
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4298
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4357
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2366
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: AG
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

19-54940598-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940598
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940598
    reference: chr 19
allele count: 40
allele frequency: 3.401476240688459e-4
allele num: 117596
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.807+41G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.807+41G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*725+41G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1717+41G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.262+41G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.954+41G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.807+41G>A
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9465
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2588
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7766
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6078
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7823
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9010
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23504
  bin: 9.75e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2053
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4362
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

19-54940600-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940600
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940600
    reference: chr 19
allele count: 2
allele frequency: 1.702272533832667e-5
allele num: 117490
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*725+43G>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.807+43G>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.954+43G>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.807+43G>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1717+43G>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.262+43G>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.807+43G>T
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9325
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7813
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7607
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2360
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4325
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

19-54940608-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54940608
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54940608
    reference: chr 19
allele count: 1
allele frequency: 8.54642417612471e-6
allele num: 117008
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.807+51A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.807+51A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.262+51A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.807+51A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1717+51A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.954+51A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*725+51A>G
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7794
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6066
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6947
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1417
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

19-54941010-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54941010
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54941010
    reference: chr 19
allele count: 2
allele frequency: 1.678443746957821e-5
allele num: 119158
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.263-50G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*726-50G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1718-50G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.955-50G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.808-50G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.808-50G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.808-50G>A
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6963
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2505
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3408
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28790
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

19-54941015-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54941015
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54941015
    reference: chr 19
allele count: 1
allele frequency: 8.402655239055541e-6
allele num: 119010
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.808-45C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.955-45C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1718-45C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.808-45C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*726-45C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.263-45C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.808-45C>T
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29748
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10045
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3389
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2434
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS

19-54941016-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54941016
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54941016
    reference: chr 19
allele count: 4
allele frequency: 3.355817309305681e-5
allele num: 119196
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1718-44G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.808-44G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.263-44G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.955-44G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.808-44G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*726-44G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.808-44G>A
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15227
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7647
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23472
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30258
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2422
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10083
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

19-54941018-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54941018
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54941018
    reference: chr 19
allele count: 1
allele frequency: 8.380403265005112e-6
allele num: 119326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.263-42G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*726-42G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1718-42G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.955-42G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.808-42G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.808-42G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.808-42G>C
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1498
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23595
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4986
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3369
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3689
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3128
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

19-54941024-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54941024
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54941024
    reference: chr 19
allele count: 1
allele frequency: 8.371983992766606e-6
allele num: 119446
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.263-36T>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.955-36T>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.808-36T>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*726-36T>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.808-36T>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1718-36T>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.808-36T>G
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23781
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3111
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

19-54941025-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54941025
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54941025
    reference: chr 19
allele count: 1
allele frequency: 8.369601606963508e-6
allele num: 119480
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.808-35T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.263-35T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1718-35T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*726-35T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.955-35T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.808-35T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.808-35T>C
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10145
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3365
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

19-54941028-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54941028
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54941028
    reference: chr 19
allele count: 3
allele frequency: 2.509620210808098e-5
allele num: 119540
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.808-32G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1718-32G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.955-32G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.808-32G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.263-32G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.808-32G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*726-32G>A
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23886
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

19-54941033-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54941033
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54941033
    reference: chr 19
allele count: 2
allele frequency: 1.670704201821068e-5
allele num: 119710
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.808-27G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.808-27G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.955-27G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*726-27G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1718-27G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.263-27G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.808-27G>A
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15324
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10203
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2408
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-54941039-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54941039
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54941039
    reference: chr 19
allele count: 1
allele frequency: 8.32209850035785e-6
allele num: 120162
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*726-21C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.955-21C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.808-21C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1718-21C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.808-21C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.263-21C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.808-21C>A
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4977
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34077
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3355
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3123
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

19-54941040-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54941040
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54941040
    reference: chr 19
allele count: 1
allele frequency: 8.318913882603488e-6
allele num: 120208
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.808-20T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*726-20T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.808-20T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.955-20T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.263-20T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.808-20T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1718-20T>C
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4978
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10296
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3125
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34171
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2403
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

19-54941043-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54941043
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54941043
    reference: chr 19
allele count: 1
allele frequency: 8.306475728477921e-6
allele num: 120388
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1718-17T>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.808-17T>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.808-17T>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.263-17T>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.808-17T>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.955-17T>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*726-17T>G
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10609
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15393
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24356
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3133
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

19-54941046-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54941046
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54941046
    reference: chr 19
allele count: 1
allele frequency: 8.295588406085643e-6
allele num: 120546
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*726-14G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.808-14G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1718-14G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.808-14G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.263-14G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.955-14G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.808-14G>A
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15415
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10345
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34587
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/19-54941047-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54941047
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54941047
    reference: chr 19
allele count: 1
allele frequency: 8.292148993333113e-6
allele num: 120596
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*726-13C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.808-13C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.808-13C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.808-13C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1718-13C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.955-13C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.263-13C>A
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4986
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3132
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP

19-54941056-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54941056
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54941056
    reference: chr 19
allele count: 1
allele frequency: 8.260776182530111e-6
allele num: 121054
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1718-4G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.808-4G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.955-4G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.808-4G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*726-4G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.808-4G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.263-4G>A
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4989
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3128
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: c.808-4G>A
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

19-54941060-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54941060
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54941060
    reference: chr 19
allele count: 1
allele frequency: 8.25300409349003e-6
allele num: 121168
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.808G>A
  hgvsp: ENSP00000365714.3:p.Gly270Ser
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.808G>A
  hgvsp: ENSP00000365713.3:p.Gly270Ser
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.808G>A
  hgvsp: ENSP00000301194.4:p.Gly270Ser
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1718G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*726G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.263G>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.955G>A
  hgvsp: ENSP00000375619.3:p.Gly319Ser
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4989
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35315
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2407
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3352
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly270Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

19-54941069-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54941069
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54941069
    reference: chr 19
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*735G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.817G>C
  hgvsp: ENSP00000365714.3:p.Asp273His
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.817G>C
  hgvsp: ENSP00000365713.3:p.Asp273His
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1727G>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.964G>C
  hgvsp: ENSP00000375619.3:p.Asp322His
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.817G>C
  hgvsp: ENSP00000301194.4:p.Asp273His
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.272G>C
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15501
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3129
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3682
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2407
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp273His
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

19-54941071-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54941071
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54941071
    reference: chr 19
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.274C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.819C>T
  hgvsp: ENST00000301194.4:c.819C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.819C>T
  hgvsp: ENST00000376531.3:c.819C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1729C>T
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.966C>T
  hgvsp: ENST00000391739.3:c.966C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.819C>T
  hgvsp: ENST00000376530.3:c.819C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*737C>T
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15501
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10411
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35417
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3351
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp273Asp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

19-54941082-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54941082
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54941082
    reference: chr 19
allele count: 3
allele frequency: 2.473329266080762e-5
allele num: 121294
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.830A>G
  hgvsp: ENSP00000301194.4:p.Asn277Ser
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.977A>G
  hgvsp: ENSP00000375619.3:p.Asn326Ser
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.830A>G
  hgvsp: ENSP00000365713.3:p.Asn277Ser
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.285A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.830A>G
  hgvsp: ENSP00000365714.3:p.Asn277Ser
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1740A>G
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*748A>G
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2407
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3352
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn277Ser
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-54941090-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54941090
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54941090
    reference: chr 19
allele count: 2
allele frequency: 1.648886177387175e-5
allele num: 121294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.838C>A
  hgvsp: ENSP00000301194.4:p.Pro280Thr
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*756C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.293C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.838C>A
  hgvsp: ENSP00000365714.3:p.Pro280Thr
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.985C>A
  hgvsp: ENSP00000375619.3:p.Pro329Thr
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1748C>A
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.838C>A
  hgvsp: ENSP00000365713.3:p.Pro280Thr
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10412
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro280Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ

19-54941095-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 54941095
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 54941095
    reference: chr 19
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365714
  ensembl transcript: ENST00000376531
  gene symbol: TTYH1
  hgvsc: ENST00000376531.3:c.843T>C
  hgvsp: ENST00000376531.3:c.843T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000489425
  gene symbol: TTYH1
  hgvsc: ENST00000489425.1:n.298T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000301194
  ensembl transcript: ENST00000301194
  gene symbol: TTYH1
  hgvsc: ENST00000301194.4:c.843T>C
  hgvsp: ENST00000301194.4:c.843T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000375619
  ensembl transcript: ENST00000391739
  gene symbol: TTYH1
  hgvsc: ENST00000391739.3:c.990T>C
  hgvsp: ENST00000391739.3:c.990T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000471789
  ensembl transcript: ENST00000472198
  gene symbol: TTYH1
  hgvsc: ENST00000472198.1:c.*761T>C
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000167614
  ensembl protein: ENSP00000365713
  ensembl transcript: ENST00000376530
  gene symbol: TTYH1
  hgvsc: ENST00000376530.3:c.843T>C
  hgvsp: ENST00000376530.3:c.843T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13476
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000167614
  ensembl transcript: ENST00000487134
  gene symbol: TTYH1
  hgvsc: ENST00000487134.1:n.1753T>C
  variant of: http://identifiers.org/hgnc/13476
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15511
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35458
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10404
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3349
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr281Tyr
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

GenotypeQuality
all individuals: 1414
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9151
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3394
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1880
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4449
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6116
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 29626
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66260
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.451e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-2

QD
type: SiteQuality
SIO_000300: 1.224e1

VQSLOD
type: SiteQuality
SIO_000300: -7.619e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.957e0

MQRankSum
type: SiteQuality
SIO_000300: 2.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.04e-1

DP
type: SiteQuality
SIO_000300: 1.875624e6

MQ
type: SiteQuality
SIO_000300: 5.944e1

GenotypeQuality
all individuals: 9069
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29219
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1878
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6109
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3379
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1411
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510391493475109e-5
allele num: 66208
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: 898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.869453e6

FS
type: SiteQuality
SIO_000300: 4.529e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.384e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.75e-1

MQ
type: SiteQuality
SIO_000300: 5.927e1

QD
type: SiteQuality
SIO_000300: 1.508e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.291e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e0

GenotypeQuality
all individuals: 1410
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.511532996765319e-5
allele num: 66158
num of homozygotes: 0

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

VQSLOD
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MQRankSum
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QD
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InbreedingCoeff
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FS
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MQ
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BaseQRankSum
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ReadPosRankSum
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DP
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ClippingRankSum
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SIO_000300: -4.61e-1

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

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

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.516162290011523e-5
allele num: 65956
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

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

QD
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SIO_000300: 1.466e1

DP
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ClippingRankSum
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FS
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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BaseQRankSum
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SIO_000300: 2.39e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 16290
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.517911353976928e-5
allele num: 65880
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 894
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Latino
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10308
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.771e-1

FS
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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DP
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InbreedingCoeff
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SIO_000300: -2.0e-4

MQRankSum
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MQ
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SIO_000300: 5.887e1

QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.67e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6504
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East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10298
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519110408944522e-5
allele num: 65828
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.51e-1

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

MQRankSum
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SIO_000300: -5.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
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SIO_000300: 1.819663e6

MQ
type: SiteQuality
SIO_000300: 5.952e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.721952167995334e-5
allele num: 10286
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522023682688503e-5
allele num: 65702
num of homozygotes: 0

South Asian
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allele count: 0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.462e0

MQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

ReadPosRankSum
type: SiteQuality
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DP
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VQSLOD
type: SiteQuality
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FS
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MQ
type: SiteQuality
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InbreedingCoeff
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.522626225714112e-5
allele num: 65676
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African
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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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South Asian
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BaseQRankSum
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ReadPosRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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QD
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MQRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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South Asian
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East Asian
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European (Non-Finnish)
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Other
type: Population
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European (Finnish)
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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QD
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MQ
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VQSLOD
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FS
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ClippingRankSum
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Finnish)
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Other
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Latino
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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MQRankSum
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QD
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FS
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MQ
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InbreedingCoeff
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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East Asian
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Latino
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European (Finnish)
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Other
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European (Non-Finnish)
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allele frequency: 1.540879534038029e-5
allele num: 64898
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QD
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VQSLOD
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FS
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DP
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1660
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33621
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 571
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10098
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517036317849449e-5
allele num: 65918
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.066e0

DP
type: SiteQuality
SIO_000300: 3.010591e6

FS
type: SiteQuality
SIO_000300: 1.2315e1

VQSLOD
type: SiteQuality
SIO_000300: -7.538e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

QD
type: SiteQuality
SIO_000300: 1.126e1

GenotypeQuality
all individuals: 331
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1659
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7170
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1966
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3688
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33600
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3018
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2812
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.089392278650591e-5
allele num: 16422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10088
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65892
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.0403e1

VQSLOD
type: SiteQuality
SIO_000300: -5.653e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.328e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

DP
type: SiteQuality
SIO_000300: 3.010189e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

QD
type: SiteQuality
SIO_000300: 1.254e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e-1

GenotypeQuality
all individuals: 459
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1988
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2824
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33610
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1661
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3110
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.476245654692932e-4
allele num: 8630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65972
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 2.314e1

MQRankSum
type: SiteQuality
SIO_000300: -3.13e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.937e-1

DP
type: SiteQuality
SIO_000300: 3.013127e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.21e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.832e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-2

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33612
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3139
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variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1670
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variant carriers: 0

GenotypeQuality
all individuals: 2009
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514417252241338e-5
allele num: 66032
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10150
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e-1

DP
type: SiteQuality
SIO_000300: 3.019972e6

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.91e-1

FS
type: SiteQuality
SIO_000300: 5.119e0

QD
type: SiteQuality
SIO_000300: 1.665e1

GenotypeQuality
all individuals: 98
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33622
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 3159
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1678
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3105
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3871
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.967848384850595e-4
allele num: 66062
num of homozygotes: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10160
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.158748551564311e-4
allele num: 8630
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.17e-2

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

QD
type: SiteQuality
SIO_000300: 1.272e1

DP
type: SiteQuality
SIO_000300: 3.02452e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.92e-1

FS
type: SiteQuality
SIO_000300: 2.952e0

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

GenotypeQuality
all individuals: 3159
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1678
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2023
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8611
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33622
bin: 9.75e1
variant carriers: 13

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10160
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66062
num of homozygotes: 0

East Asian
type: Population
allele count: 13
allele frequency: 1.506373117033604e-3
allele num: 8630
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.952e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.16e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

DP
type: SiteQuality
SIO_000300: 3.02452e6

VQSLOD
type: SiteQuality
SIO_000300: 2.18e0

QD
type: SiteQuality
SIO_000300: 1.272e1

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.17e-2

GenotypeQuality
all individuals: 2851
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 617
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GenotypeQuality
all individuals: 3900
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1680
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8766
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33611
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513317191283293e-5
allele num: 66080
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.024971e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.491e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 1.09e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.658e-1

FS
type: SiteQuality
SIO_000300: 1.329e0

QD
type: SiteQuality
SIO_000300: 2.561e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.82e-1

GenotypeQuality
all individuals: 66
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2794
bin: 8.25e1
variant carriers: 33

GenotypeQuality
all individuals: 7823
bin: 6.25e1
variant carriers: 9

GenotypeQuality
all individuals: 1515
bin: 8.75e1
variant carriers: 9

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1779
bin: 7.25e1
variant carriers: 15

GenotypeQuality
all individuals: 37151
bin: 9.75e1
variant carriers: 21649

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 3457
bin: 6.75e1
variant carriers: 13

GenotypeQuality
all individuals: 2608
bin: 9.25e1
variant carriers: 21

GenotypeQuality
all individuals: 74
bin: 5.25e1
variant carriers: 14

GenotypeQuality
all individuals: 2815
bin: 7.75e1
variant carriers: 20

Other
type: Population
allele count: 189
allele frequency: 2.095343680709534e-1
allele num: 902
num of homozygotes: 22

Latino
type: Population
allele count: 1410
allele frequency: 1.218879668049793e-1
allele num: 11568
num of homozygotes: 116

European (Non-Finnish)
type: Population
allele count: 16454
allele frequency: 2.476669275693901e-1
allele num: 66436
num of homozygotes: 2069

African
type: Population
allele count: 1104
allele frequency: 1.076023391812865e-1
allele num: 10260
num of homozygotes: 53

European (Finnish)
type: Population
allele count: 1126
allele frequency: 1.703995157384988e-1
allele num: 6608
num of homozygotes: 102

East Asian
type: Population
allele count: 893
allele frequency: 1.033804121324381e-1
allele num: 8638
num of homozygotes: 51

South Asian
type: Population
allele count: 3392
allele frequency: 2.056006788701661e-1
allele num: 16498
num of homozygotes: 352

FS
type: SiteQuality
SIO_000300: 5.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.71e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.74e-1

QD
type: SiteQuality
SIO_000300: 1.533e1

VQSLOD
type: SiteQuality
SIO_000300: 4.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.08e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

DP
type: SiteQuality
SIO_000300: 3.794188e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.429999999999999e-1

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 5557
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23601
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2920
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12113
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4457
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4511
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506477854775535e-5
allele num: 66380
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.0e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

DP
type: SiteQuality
SIO_000300: 2.370881e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.642e0

MQRankSum
type: SiteQuality
SIO_000300: -3.9e-1

GenotypeQuality
all individuals: 83
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5556
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2395
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23600
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 66
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4456
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12226
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2920
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506160195198361e-5
allele num: 66394
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.0178e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.327e0

VQSLOD
type: SiteQuality
SIO_000300: -9.406e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.75e-1

QD
type: SiteQuality
SIO_000300: 9.69e0

DP
type: SiteQuality
SIO_000300: 2.371157e6

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

GenotypeQuality
all individuals: 34
bin: 4.25e1
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: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
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: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.765625000000001e-5
allele num: 10240
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: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66398
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: 2.37e0

MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.133e0

FS
type: SiteQuality
SIO_000300: 5.48e-1

QD
type: SiteQuality
SIO_000300: 1.039e1

DP
type: SiteQuality
SIO_000300: 2.371346e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.17e-1

GenotypeQuality
all individuals: 55
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4107
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23596
bin: 9.75e1
variant carriers: 1

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66398
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.765625000000001e-5
allele num: 10240
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.133e0

MQRankSum
type: SiteQuality
SIO_000300: 1.75e-1

DP
type: SiteQuality
SIO_000300: 2.371346e6

FS
type: SiteQuality
SIO_000300: 5.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.039e1

MQ
type: SiteQuality
SIO_000300: 5.962e1

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

GenotypeQuality
all individuals: 22
bin: 5.75e1
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: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4510
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4107
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4455
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505615947484116e-5
allele num: 66418
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.472e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.371538e6

MQ
type: SiteQuality
SIO_000300: 5.932e1

QD
type: SiteQuality
SIO_000300: 2.837e1

VQSLOD
type: SiteQuality
SIO_000300: -2.518e0

GenotypeQuality
all individuals: 511
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4109
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4501
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505888022166672e-5
allele num: 66406
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.942e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.403e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.64e-1

FS
type: SiteQuality
SIO_000300: 3.075e0

MQRankSum
type: SiteQuality
SIO_000300: 6.55e-1

QD
type: SiteQuality
SIO_000300: 1.254e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.16e-1

DP
type: SiteQuality
SIO_000300: 2.371243e6

VQSLOD
type: SiteQuality
SIO_000300: 9.96e-1

GenotypeQuality
all individuals: 65
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4502
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 23583
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 4109
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.634161114476075e-4
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66388
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10234
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: 6612
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.164e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.41e-1

DP
type: SiteQuality
SIO_000300: 2.371161e6

FS
type: SiteQuality
SIO_000300: 1.767e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

MQRankSum
type: SiteQuality
SIO_000300: 7.43e-1

QD
type: SiteQuality
SIO_000300: 1.207e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.24e-1

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

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 23577
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4507
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variant carriers: 0

GenotypeQuality
all individuals: 2921
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variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 4108
bin: 9.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506477854775535e-5
allele num: 66380
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.887e1

VQSLOD
type: SiteQuality
SIO_000300: 5.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.92e-1

QD
type: SiteQuality
SIO_000300: 2.152e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.43e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.12e0

DP
type: SiteQuality
SIO_000300: 2.370012e6

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66350
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.148e1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 2.369117e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.14e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

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: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
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GenotypeQuality
all individuals: 2393
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66306
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.960399921584003e-4
allele num: 10202
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.045e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-1

DP
type: SiteQuality
SIO_000300: 2.367177e6

MQRankSum
type: SiteQuality
SIO_000300: 4.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.149999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4493
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 64
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 5508
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2909
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.320185614849188e-4
allele num: 8620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.525842561023444e-5
allele num: 66286
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: 16512
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.116e0

MQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

DP
type: SiteQuality
SIO_000300: 2.366714e6

QD
type: SiteQuality
SIO_000300: 1.048e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.41e-1

GenotypeQuality
all individuals: 4107
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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: 8618
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.034092623321768e-5
allele num: 66290
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.256e1

FS
type: SiteQuality
SIO_000300: 3.242e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

DP
type: SiteQuality
SIO_000300: 2.366464e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.09e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10126
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.538165975856957e-5
allele num: 66106
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

FS
type: SiteQuality
SIO_000300: 2.784e0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e-1

DP
type: SiteQuality
SIO_000300: 2.359195e6

QD
type: SiteQuality
SIO_000300: 1.242e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.11e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16144018583043e-4
allele num: 8610
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.658008658008658e-5
allele num: 11550
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.538852578068264e-5
allele num: 66096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.513317191283293e-4
allele num: 6608
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.492e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

QD
type: SiteQuality
SIO_000300: 1.249e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.351e0

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-2

DP
type: SiteQuality
SIO_000300: 2.35916e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.0e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.28e-1

GenotypeQuality
all individuals: 1103
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 23556
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variant carriers: 1

GenotypeQuality
all individuals: 4103
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10116
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66054
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.658008658008658e-5
allele num: 11550
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.683e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.09e-1

DP
type: SiteQuality
SIO_000300: 2.357342e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.74e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

QD
type: SiteQuality
SIO_000300: 1.109e1

MQ
type: SiteQuality
SIO_000300: 5.938e1

GenotypeQuality
all individuals: 2863
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65870
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

African
type: Population
allele count: 5
allele frequency: 4.979087831109341e-4
allele num: 10042
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.941e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.321e0

MQRankSum
type: SiteQuality
SIO_000300: -9.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.63e0

DP
type: SiteQuality
SIO_000300: 2.350456e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.69e-1

FS
type: SiteQuality
SIO_000300: 5.93e-1

QD
type: SiteQuality
SIO_000300: 1.136e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.080000000000001e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4101
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65848
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.597e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.350241e6

QD
type: SiteQuality
SIO_000300: 1.193e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.351e0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

VQSLOD
type: SiteQuality
SIO_000300: -2.093e-1

ReadPosRankSum
type: SiteQuality
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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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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4423
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.042565491222199e-5
allele num: 65734
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9972
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.27e-1

DP
type: SiteQuality
SIO_000300: 2.345508e6

VQSLOD
type: SiteQuality
SIO_000300: -2.073e0

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.535e1

FS
type: SiteQuality
SIO_000300: 5.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

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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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521097624045511e-5
allele num: 65742
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9956
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

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

GenotypeQuality
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bin: 8.75e1
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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variant carriers: 0

GenotypeQuality
all individuals: 4420
bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele frequency: 1.522209029743965e-5
allele num: 65694
num of homozygotes: 0

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

VQSLOD
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FS
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InbreedingCoeff
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MQ
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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QD
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ClippingRankSum
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SIO_000300: -1.41e-1

DP
type: SiteQuality
SIO_000300: 2.343038e6

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

Other
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allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 7
allele frequency: 1.065546320820775e-4
allele num: 65694
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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DP
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MQ
type: SiteQuality
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65284
num of homozygotes: 0

African
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

FS
type: SiteQuality
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MQRankSum
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MQ
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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QD
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SIO_000300: 1.01e1

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

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

African
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allele frequency: 1.037129226301597e-4
allele num: 9642
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East Asian
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allele frequency: 3.51288056206089e-4
allele num: 8540
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South Asian
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allele frequency: 3.642102707296346e-4
allele num: 16474
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65110
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Latino
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allele frequency: 0.0e0
allele num: 11502
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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BaseQRankSum
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MQRankSum
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VQSLOD
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DP
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.9e-2

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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African
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allele count: 1
allele frequency: 1.041666666666667e-4
allele num: 9600
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65006
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6596
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East Asian
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allele frequency: 0.0e0
allele num: 8528
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South Asian
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.05e-1

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.012e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.928e1

QD
type: SiteQuality
SIO_000300: 1.232e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

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

European (Non-Finnish)
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allele count: 4
allele frequency: 6.159721580584558e-5
allele num: 64938
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11494
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South Asian
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allele num: 16468
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East Asian
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

FS
type: SiteQuality
SIO_000300: 7.39e-1

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.165228113440197e-5
allele num: 64880
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
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African
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Other
type: Population
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.3e-2

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

East Asian
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num of homozygotes: 0

Latino
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 64880
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Other
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African
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allele frequency: 5.245488879563575e-4
allele num: 9532
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

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

European (Non-Finnish)
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South Asian
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allele num: 16450
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African
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European (Finnish)
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allele frequency: 0.0e0
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Other
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East Asian
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ReadPosRankSum
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VQSLOD
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FS
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MQ
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MQRankSum
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DP
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QD
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 64504
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African
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Other
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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FS
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MQ
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BaseQRankSum
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QD
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4075
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2362
bin: 8.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.518833535844471e-4
allele num: 6584
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 38
allele frequency: 5.899338653087838e-4
allele num: 64414
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.071811361200429e-4
allele num: 9330
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.82e-1

DP
type: SiteQuality
SIO_000300: 2.270231e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -9.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e-1

QD
type: SiteQuality
SIO_000300: 1.343e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9304
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.554049853919314e-5
allele num: 64348
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.738203425375742e-5
allele num: 11444
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 2.266299e6

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.088e0

QD
type: SiteQuality
SIO_000300: 1.404e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.425e0

VQSLOD
type: SiteQuality
SIO_000300: 1.63e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.561182752052955e-5
allele num: 64054
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9216
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.254344e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.11e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

QD
type: SiteQuality
SIO_000300: 1.704e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.017e-1

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.317870321560359e-4
allele num: 15176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65944
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.568e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.16e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.741972e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

QD
type: SiteQuality
SIO_000300: 8.06e0

FS
type: SiteQuality
SIO_000300: 2.839e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
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GenotypeQuality
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GenotypeQuality
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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: 1302
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GenotypeQuality
all individuals: 3124
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517128379403465e-5
allele num: 65914
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15082
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.98e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

DP
type: SiteQuality
SIO_000300: 1.746002e6

QD
type: SiteQuality
SIO_000300: 1.484e1

VQSLOD
type: SiteQuality
SIO_000300: 4.62e-1

FS
type: SiteQuality
SIO_000300: 5.186e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 951
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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: 4

GenotypeQuality
all individuals: 3694
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variant carriers: 0

GenotypeQuality
all individuals: 3135
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.972645975802209e-4
allele num: 15208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65956
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.648784253184099e-5
allele num: 10364
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.55e-1

DP
type: SiteQuality
SIO_000300: 1.748068e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.68e-1

QD
type: SiteQuality
SIO_000300: 1.138e1

FS
type: SiteQuality
SIO_000300: 4.749e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.16e-1

GenotypeQuality
all individuals: 55
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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
all individuals: 2417
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15278
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65994
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.26e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.022e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.62e-2

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66042
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.63948332369385e-5
allele num: 10374
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

QD
type: SiteQuality
SIO_000300: 1.349e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.83e-1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.987e0

DP
type: SiteQuality
SIO_000300: 1.758102e6

GenotypeQuality
all individuals: 3114
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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: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514050387596899e-5
allele num: 66048
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
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: 8642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.96e-1

DP
type: SiteQuality
SIO_000300: 1.759085e6

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 5.31e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 128
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 3
allele frequency: 2.891287586738628e-4
allele num: 10376
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66068
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.763252e6

QD
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 6.47e-1

MQRankSum
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SIO_000300: 7.9e-2

BaseQRankSum
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SIO_000300: -2.199e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-2

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.91e1

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

East Asian
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allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.024254521260509e-5
allele num: 66132
num of homozygotes: 0

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

ClippingRankSum
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SIO_000300: -3.05e-1

MQ
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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QD
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DP
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FS
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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allele num: 10386
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

DP
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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QD
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MQ
type: SiteQuality
SIO_000300: 5.889e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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African
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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Latino
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allele frequency: 0.0e0
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Other
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allele num: 894
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South Asian
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MQ
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SIO_000300: 6.0e1

MQRankSum
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ReadPosRankSum
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FS
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QD
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66334
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South Asian
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allele num: 15950
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European (Finnish)
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allele frequency: 0.0e0
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African
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Latino
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East Asian
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Other
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MQ
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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MQRankSum
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FS
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QD
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VQSLOD
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ClippingRankSum
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SIO_000300: 1.1e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

European (Non-Finnish)
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Latino
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allele frequency: 8.644536652835408e-5
allele num: 11568
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African
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East Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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InbreedingCoeff
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MQRankSum
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FS
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ReadPosRankSum
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BaseQRankSum
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MQ
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QD
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ClippingRankSum
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VQSLOD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66616
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: 11576
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.234e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.610000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.800734e6

MQRankSum
type: SiteQuality
SIO_000300: 7.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.7e0

VQSLOD
type: SiteQuality
SIO_000300: 3.35e-1

FS
type: SiteQuality
SIO_000300: 8.071999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.09e-1

GenotypeQuality
all individuals: 10419
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35452
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1288
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3685
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3130
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 1.75e1
variant carriers: 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: 10394
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
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: 906
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.16e0

FS
type: SiteQuality
SIO_000300: 4.472e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.99e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: 5.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.51e-1

QD
type: SiteQuality
SIO_000300: 1.04e1

DP
type: SiteQuality
SIO_000300: 1.801398e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.05e-1

GenotypeQuality
all individuals: 879
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35454
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1288
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3682
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3133
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3350
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2407
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.924187030979411e-4
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

FS
type: SiteQuality
SIO_000300: 2.148e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.1e0

QD
type: SiteQuality
SIO_000300: 1.103e1

DP
type: SiteQuality
SIO_000300: 1.801301e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3684
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1288
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3132
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2409
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 880
bin: 8.75e1
variant carriers: 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: 10396
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500510173458976e-5
allele num: 66644
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: 6612
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.501e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.31e-1

DP
type: SiteQuality
SIO_000300: 1.801296e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.896e1