2-47277060-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47277060
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47277060
    reference: chr 2
allele count: 4
allele frequency: 3.655304761034451e-5
allele num: 109430
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-3002G>A
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.333-28C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1027-28C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000496991
  gene symbol: TTC7A
  hgvsc: ENST00000496991.3:n.118-28C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1818-28C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000461601
  gene symbol: TTC7A
  hgvsc: ENST00000461601.1:n.2128-28C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.1992-28C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.858-28C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*769-28C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000401467
  ensembl transcript: ENST00000440051
  gene symbol: TTC7A
  hgvsc: ENST00000440051.1:c.*284-28C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1324-28C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.1920-28C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1669-28C>T
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9373
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8165
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/2-47277060-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47277060
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47277060
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 109430
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000496991
  gene symbol: TTC7A
  hgvsc: ENST00000496991.3:n.118-28C>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000461601
  gene symbol: TTC7A
  hgvsc: ENST00000461601.1:n.2128-28C>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1818-28C>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.1992-28C>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1324-28C>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1669-28C>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.1920-28C>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-3002G>T
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.333-28C>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.858-28C>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1027-28C>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000401467
  ensembl transcript: ENST00000440051
  gene symbol: TTC7A
  hgvsc: ENST00000440051.1:c.*284-28C>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*769-28C>A
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9373
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: C
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

2-47277061-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47277061
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47277061
    reference: chr 2
allele count: 47
allele frequency: 4.270320364885246e-4
allele num: 110062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000401467
  ensembl transcript: ENST00000440051
  gene symbol: TTC7A
  hgvsc: ENST00000440051.1:c.*284-27G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.1920-27G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000461601
  gene symbol: TTC7A
  hgvsc: ENST00000461601.1:n.2128-27G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000496991
  gene symbol: TTC7A
  hgvsc: ENST00000496991.3:n.118-27G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-3003C>T
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.1992-27G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.333-27G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1324-27G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*769-27G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.858-27G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1818-27G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1669-27G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1027-27G>A
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8511
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28276
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8273
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5294
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

2-47277084-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47277084
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47277084
    reference: chr 2
allele count: 2
allele frequency: 1.691389137898956e-5
allele num: 118246
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000461601
  gene symbol: TTC7A
  hgvsc: ENST00000461601.1:n.2128-4C>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1669-4C>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.333-4C>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1818-4C>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000401467
  ensembl transcript: ENST00000440051
  gene symbol: TTC7A
  hgvsc: ENST00000440051.1:c.*284-4C>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*769-4C>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.858-4C>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-3026G>C
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000496991
  gene symbol: TTC7A
  hgvsc: ENST00000496991.3:n.118-4C>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.1920-4C>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.1992-4C>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1324-4C>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1027-4C>G
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36846
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1920-4C>G
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-47277088-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47277088
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47277088
    reference: chr 2
allele count: 1
allele frequency: 8.399832003359932e-6
allele num: 119050
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000461601
  gene symbol: TTC7A
  hgvsc: ENST00000461601.1:n.2128A>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.1992A>C
  hgvsp: ENST00000394850.2:c.1992A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.1920A>C
  hgvsp: ENST00000319190.5:c.1920A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000401467
  ensembl transcript: ENST00000440051
  gene symbol: TTC7A
  hgvsc: ENST00000440051.1:c.*284A>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1669A>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.858A>C
  hgvsp: ENST00000263737.6:c.858A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1818A>C
  hgvsp: ENST00000409245.1:c.1818A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1027A>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.333A>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*769A>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-3030T>G
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000496991
  gene symbol: TTC7A
  hgvsc: ENST00000496991.3:n.118A>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1324A>C
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12236
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1920A>C
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

2-47277089-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47277089
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47277089
    reference: chr 2
allele count: 1
allele frequency: 8.389120987902887e-6
allele num: 119202
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1028G>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000461601
  gene symbol: TTC7A
  hgvsc: ENST00000461601.1:n.2129G>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.1993G>C
  hgvsp: ENSP00000378320.2:p.Gly665Arg
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1325G>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*770G>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1819G>C
  hgvsp: ENSP00000386307.1:p.Gly607Arg
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-3031C>G
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000401467
  ensembl transcript: ENST00000440051
  gene symbol: TTC7A
  hgvsc: ENST00000440051.1:c.*285G>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.859G>C
  hgvsp: ENSP00000263737.6:p.Gly287Arg
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.1921G>C
  hgvsp: ENSP00000316699.5:p.Gly641Arg
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.334G>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1670G>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000496991
  gene symbol: TTC7A
  hgvsc: ENST00000496991.3:n.119G>C
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly641Arg
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/2-47277094-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47277094
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47277094
    reference: chr 2
allele count: 8
allele frequency: 6.679580522343197e-5
allele num: 119768
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1330A>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.1998A>C
  hgvsp: ENST00000394850.2:c.1998A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.1926A>C
  hgvsp: ENST00000319190.5:c.1926A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000401467
  ensembl transcript: ENST00000440051
  gene symbol: TTC7A
  hgvsc: ENST00000440051.1:c.*290A>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-3036T>G
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.864A>C
  hgvsp: ENST00000263737.6:c.864A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1033A>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1824A>C
  hgvsp: ENST00000409245.1:c.1824A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000496991
  gene symbol: TTC7A
  hgvsc: ENST00000496991.3:n.124A>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.339A>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*775A>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1675A>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000461601
  gene symbol: TTC7A
  hgvsc: ENST00000461601.1:n.2134A>C
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu642Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

2-47277094-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47277094
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47277094
    reference: chr 2
allele count: 1
allele frequency: 8.349475652928997e-6
allele num: 119768
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000461601
  gene symbol: TTC7A
  hgvsc: ENST00000461601.1:n.2134A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000401467
  ensembl transcript: ENST00000440051
  gene symbol: TTC7A
  hgvsc: ENST00000440051.1:c.*290A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1330A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1033A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.864A>G
  hgvsp: ENST00000263737.6:c.864A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.339A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1824A>G
  hgvsp: ENST00000409245.1:c.1824A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-3036T>C
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000496991
  gene symbol: TTC7A
  hgvsc: ENST00000496991.3:n.124A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.1998A>G
  hgvsp: ENST00000394850.2:c.1998A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*775A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1675A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.1926A>G
  hgvsp: ENST00000319190.5:c.1926A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5323
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu642Leu
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum

2-47277102-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47277102
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47277102
    reference: chr 2
allele count: 1
allele frequency: 8.309512730173502e-6
allele num: 120344
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1338A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*783A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000401467
  ensembl transcript: ENST00000440051
  gene symbol: TTC7A
  hgvsc: ENST00000440051.1:c.*298A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-3044T>C
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1041A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1683A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.1934A>G
  hgvsp: ENSP00000316699.5:p.Asp645Gly
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2006A>G
  hgvsp: ENSP00000378320.2:p.Asp669Gly
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.872A>G
  hgvsp: ENSP00000263737.6:p.Asp291Gly
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000496991
  gene symbol: TTC7A
  hgvsc: ENST00000496991.3:n.132A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000461601
  gene symbol: TTC7A
  hgvsc: ENST00000461601.1:n.2142A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.347A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1832A>G
  hgvsp: ENSP00000386307.1:p.Asp611Gly
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12923
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5409
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp645Gly
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: A
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

2-47277112-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47277112
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47277112
    reference: chr 2
allele count: 15
allele frequency: 1.242730029328429e-4
allele num: 120702
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1348C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1693C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.882C>T
  hgvsp: ENST00000263737.6:c.882C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2016C>T
  hgvsp: ENST00000394850.2:c.2016C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000461601
  gene symbol: TTC7A
  hgvsc: ENST00000461601.1:n.2152C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1051C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000496991
  gene symbol: TTC7A
  hgvsc: ENST00000496991.3:n.142C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.357C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000401467
  ensembl transcript: ENST00000440051
  gene symbol: TTC7A
  hgvsc: ENST00000440051.1:c.*308C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.1944C>T
  hgvsp: ENST00000319190.5:c.1944C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*793C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-3054G>A
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1842C>T
  hgvsp: ENST00000409245.1:c.1842C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5518
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13252
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe648Phe
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

2-47277113-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47277113
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47277113
    reference: chr 2
allele count: 1
allele frequency: 8.281847845891375e-6
allele num: 120746
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.1945G>A
  hgvsp: ENSP00000316699.5:p.Gly649Ser
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000401467
  ensembl transcript: ENST00000440051
  gene symbol: TTC7A
  hgvsc: ENST00000440051.1:c.*309G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.358G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1694G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1349G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2017G>A
  hgvsp: ENSP00000378320.2:p.Gly673Ser
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-3055C>T
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000461601
  gene symbol: TTC7A
  hgvsc: ENST00000461601.1:n.2153G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1843G>A
  hgvsp: ENSP00000386307.1:p.Gly615Ser
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000496991
  gene symbol: TTC7A
  hgvsc: ENST00000496991.3:n.143G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*794G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.883G>A
  hgvsp: ENSP00000263737.6:p.Gly295Ser
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1052G>A
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly649Ser
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-47277122-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47277122
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47277122
    reference: chr 2
allele count: 1
allele frequency: 8.266375690242371e-6
allele num: 120972
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.1954C>T
  hgvsp: ENSP00000316699.5:p.Leu652Phe
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1061C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-3064G>A
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000496991
  gene symbol: TTC7A
  hgvsc: ENST00000496991.3:n.152C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.892C>T
  hgvsp: ENSP00000263737.6:p.Leu298Phe
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.367C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1703C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*803C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000461601
  gene symbol: TTC7A
  hgvsc: ENST00000461601.1:n.2162C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1852C>T
  hgvsp: ENSP00000386307.1:p.Leu618Phe
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2026C>T
  hgvsp: ENSP00000378320.2:p.Leu676Phe
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1358C>T
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu652Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

2-47277125-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47277125
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47277125
    reference: chr 2
allele count: 11
allele frequency: 9.089857371874329e-5
allele num: 121014
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1361A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.895A>G
  hgvsp: ENSP00000263737.6:p.Thr299Ala
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.1957A>G
  hgvsp: ENSP00000316699.5:p.Thr653Ala
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.370A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1855A>G
  hgvsp: ENSP00000386307.1:p.Thr619Ala
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1706A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2029A>G
  hgvsp: ENSP00000378320.2:p.Thr677Ala
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1064A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*806A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000496991
  gene symbol: TTC7A
  hgvsc: ENST00000496991.3:n.155A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-3067T>C
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000461601
  gene symbol: TTC7A
  hgvsc: ENST00000461601.1:n.2165A>G
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13542
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr653Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD

2-47277128-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47277128
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47277128
    reference: chr 2
allele count: 1
allele frequency: 8.261731658955718e-6
allele num: 121040
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-3070T>C
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2032A>G
  hgvsp: ENSP00000378320.2:p.Met678Val
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1858A>G
  hgvsp: ENSP00000386307.1:p.Met620Val
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.1960A>G
  hgvsp: ENSP00000316699.5:p.Met654Val
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*809A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.373A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1364A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1067A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000461601
  gene symbol: TTC7A
  hgvsc: ENST00000461601.1:n.2168A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1709A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.898A>G
  hgvsp: ENSP00000263737.6:p.Met300Val
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000496991
  gene symbol: TTC7A
  hgvsc: ENST00000496991.3:n.158A>G
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Met654Val
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

http://identifiers.org/exac.variant/2-47277131-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47277131
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47277131
    reference: chr 2
allele count: 1
allele frequency: 8.260503229856763e-6
allele num: 121058
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.1963A>C
  hgvsp: ENSP00000316699.5:p.Lys655Gln
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*812A>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-3073T>G
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.901A>C
  hgvsp: ENSP00000263737.6:p.Lys301Gln
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1712A>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000496991
  gene symbol: TTC7A
  hgvsc: ENST00000496991.3:n.161A>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1861A>C
  hgvsp: ENSP00000386307.1:p.Lys621Gln
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2035A>C
  hgvsp: ENSP00000378320.2:p.Lys679Gln
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1367A>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000461601
  gene symbol: TTC7A
  hgvsc: ENST00000461601.1:n.2171A>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.376A>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1070A>C
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5588
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13601
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys655Gln
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

2-47277137-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47277137
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47277137
    reference: chr 2
allele count: 1
allele frequency: 8.259002312520648e-6
allele num: 121080
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.382C>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.1969C>G
  hgvsp: ENSP00000316699.5:p.Gln657Glu
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.907C>G
  hgvsp: ENSP00000263737.6:p.Gln303Glu
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2041C>G
  hgvsp: ENSP00000378320.2:p.Gln681Glu
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000496991
  gene symbol: TTC7A
  hgvsc: ENST00000496991.3:n.167C>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*818C>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-3079G>C
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1718C>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1076C>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1867C>G
  hgvsp: ENSP00000386307.1:p.Gln623Glu
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000461601
  gene symbol: TTC7A
  hgvsc: ENST00000461601.1:n.2177C>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1373C>G
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln657Glu
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-47277145-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47277145
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47277145
    reference: chr 2
allele count: 1
allele frequency: 8.258865892535638e-6
allele num: 121082
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.915C>G
  hgvsp: ENST00000263737.6:c.915C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*826C>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.1977C>G
  hgvsp: ENST00000319190.5:c.1977C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000496991
  gene symbol: TTC7A
  hgvsc: ENST00000496991.3:n.175C>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.390C>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1381C>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1084C>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000461601
  gene symbol: TTC7A
  hgvsc: ENST00000461601.1:n.2185C>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2049C>G
  hgvsp: ENST00000394850.2:c.2049C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1726C>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1875C>G
  hgvsp: ENST00000409245.1:c.1875C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-3087G>C
  variant of: http://identifiers.org/hgnc/26850
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly659Gly
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-47277158-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47277158
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47277158
    reference: chr 2
allele count: 1
allele frequency: 8.258865892535638e-6
allele num: 121082
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.928T>G
  hgvsp: ENSP00000263737.6:p.Leu310Val
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1394T>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.1990T>G
  hgvsp: ENSP00000316699.5:p.Leu664Val
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*839T>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1739T>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-3100A>C
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000496991
  gene symbol: TTC7A
  hgvsc: ENST00000496991.3:n.188T>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.403T>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2062T>G
  hgvsp: ENSP00000378320.2:p.Leu688Val
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1097T>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1888T>G
  hgvsp: ENSP00000386307.1:p.Leu630Val
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000461601
  gene symbol: TTC7A
  hgvsc: ENST00000461601.1:n.2198T>G
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu664Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-47277168-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47277168
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47277168
    reference: chr 2
allele count: 1
allele frequency: 8.260912665631299e-6
allele num: 121052
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1749C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.938C>T
  hgvsp: ENSP00000263737.6:p.Ala313Val
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000496991
  gene symbol: TTC7A
  hgvsc: ENST00000496991.3:n.198C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1107C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*849C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.413C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-3110G>A
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1898C>T
  hgvsp: ENSP00000386307.1:p.Ala633Val
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2000C>T
  hgvsp: ENSP00000316699.5:p.Ala667Val
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2072C>T
  hgvsp: ENSP00000378320.2:p.Ala691Val
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1404C>T
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala667Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

2-47277171-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47277171
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47277171
    reference: chr 2
allele count: 2
allele frequency: 1.652319029758266e-5
allele num: 121042
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1901A>G
  hgvsp: ENSP00000386307.1:p.His634Arg
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.941A>G
  hgvsp: ENSP00000263737.6:p.His314Arg
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-3113T>C
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1110A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2075A>G
  hgvsp: ENSP00000378320.2:p.His692Arg
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.416A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*852A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1752A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2003A>G
  hgvsp: ENSP00000316699.5:p.His668Arg
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1407A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000496991
  gene symbol: TTC7A
  hgvsc: ENST00000496991.3:n.201A>G
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36636
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His668Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

2-47277172-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47277172
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47277172
    reference: chr 2
allele count: 1
allele frequency: 8.262141216517673e-6
allele num: 121034
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1111T>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2004T>C
  hgvsp: ENST00000319190.5:c.2004T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1753T>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2076T>C
  hgvsp: ENST00000394850.2:c.2076T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1902T>C
  hgvsp: ENST00000409245.1:c.1902T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*853T>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000496991
  gene symbol: TTC7A
  hgvsc: ENST00000496991.3:n.202T>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.417T>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.942T>C
  hgvsp: ENST00000263737.6:c.942T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1408T>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-3114A>G
  variant of: http://identifiers.org/hgnc/26850
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13813
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His668His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

2-47277182-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47277182
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47277182
    reference: chr 2
allele count: 247
allele frequency: 2.042064883097986e-3
allele num: 120956
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1912T>C
  hgvsp: ENSP00000386307.1:p.Ser638Pro
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.427T>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2086T>C
  hgvsp: ENSP00000378320.2:p.Ser696Pro
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-3124A>G
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1763T>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000496991
  gene symbol: TTC7A
  hgvsc: ENST00000496991.3:n.212T>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1121T>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*863T>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2014T>C
  hgvsp: ENSP00000316699.5:p.Ser672Pro
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.952T>C
  hgvsp: ENSP00000263737.6:p.Ser318Pro
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1418T>C
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 3.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 6.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13734
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 5.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 3.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 35773
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: p.Ser672Pro
num of homozygotes: 1
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

2-47277183-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47277183
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47277183
    reference: chr 2
allele count: 32
allele frequency: 2.646246464780113e-4
allele num: 120926
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*864C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.953C>T
  hgvsp: ENSP00000263737.6:p.Ser318Phe
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.428C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2087C>T
  hgvsp: ENSP00000378320.2:p.Ser696Phe
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000496991
  gene symbol: TTC7A
  hgvsc: ENST00000496991.3:n.213C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2015C>T
  hgvsp: ENSP00000316699.5:p.Ser672Phe
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-3125G>A
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1913C>T
  hgvsp: ENSP00000386307.1:p.Ser638Phe
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1122C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1764C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1419C>T
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5673
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13725
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 35439
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser672Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

2-47277193-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47277193
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47277193
    reference: chr 2
allele count: 5
allele frequency: 4.14119829713926e-5
allele num: 120738
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1915+8C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000496991
  gene symbol: TTC7A
  hgvsc: ENST00000496991.3:n.215+8C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2089+8C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1124+8C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1766+8C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*866+8C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.430+8C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1421+8C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.955+8C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-3135G>A
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2017+8C>T
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5678
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13490
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2017+8C>T
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

2-47277194-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47277194
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47277194
    reference: chr 2
allele count: 22
allele frequency: 1.822670709681696e-4
allele num: 120702
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*866+9G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000496991
  gene symbol: TTC7A
  hgvsc: ENST00000496991.3:n.215+9G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1124+9G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-3136C>T
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1766+9G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2089+9G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.955+9G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1421+9G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2017+9G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1915+9G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.430+9G>A
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5667
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 34028
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13350
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/2-47277207-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47277207
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47277207
    reference: chr 2
allele count: 55455
allele frequency: 4.653592467650169e-1
allele num: 119166
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-3149G>T
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1421+22C>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000496991
  gene symbol: TTC7A
  hgvsc: ENST00000496991.3:n.215+22C>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2089+22C>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.955+22C>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1766+22C>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.430+22C>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*866+22C>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2017+22C>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1124+22C>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1915+22C>A
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 5.25e1
  variant carriers: 2401
genotype depth: GenotypeDepth
  all individuals: 9854
  bin: 2.75e1
  variant carriers: 5842
genotype depth: GenotypeDepth
  all individuals: 7115
  bin: 3.75e1
  variant carriers: 6629
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 163
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 6.25e1
  variant carriers: 1013
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 5.75e1
  variant carriers: 1599
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.75e1
  variant carriers: 681
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 465
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 4.75e1
  variant carriers: 3519
genotype depth: GenotypeDepth
  all individuals: 8180
  bin: 3.25e1
  variant carriers: 6787
genotype depth: GenotypeDepth
  all individuals: 13554
  bin: 2.25e1
  variant carriers: 4058
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 216
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 1.25e1
  variant carriers: 625
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.5e0
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.75e1
  variant carriers: 346
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 9.75e1
  variant carriers: 533
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 1.75e1
  variant carriers: 1995
genotype depth: GenotypeDepth
  all individuals: 5299
  bin: 4.25e1
  variant carriers: 5057
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 6.75e1
  variant carriers: 588
num of homozygotes: 13832
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

2-47277207-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47277207
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47277207
    reference: chr 2
allele count: 1
allele frequency: 8.391655337931961e-6
allele num: 119166
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2017+22C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2089+22C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1766+22C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000496991
  gene symbol: TTC7A
  hgvsc: ENST00000496991.3:n.215+22C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-3149G>A
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.955+22C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*866+22C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1421+22C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.430+22C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1124+22C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1915+22C>T
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9854
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7115
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5299
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11423
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

2-47277208-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47277208
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47277208
    reference: chr 2
allele count: 55693
allele frequency: 4.677018424897966e-1
allele num: 119078
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2089+23A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*866+23A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.430+23A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1766+23A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2017+23A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1421+23A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1124+23A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.955+23A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000496991
  gene symbol: TTC7A
  hgvsc: ENST00000496991.3:n.215+23A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1915+23A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-3150T>C
  variant of: http://identifiers.org/hgnc/26850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 4.75e1
  variant carriers: 3515
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 5.75e1
  variant carriers: 1548
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 4.25e1
  variant carriers: 5002
genotype depth: GenotypeDepth
  all individuals: 8259
  bin: 3.25e1
  variant carriers: 6809
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 1.75e1
  variant carriers: 1988
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 168
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 1.25e1
  variant carriers: 626
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 5.25e1
  variant carriers: 2436
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.5e0
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.25e1
  variant carriers: 1026
genotype depth: GenotypeDepth
  all individuals: 9884
  bin: 2.75e1
  variant carriers: 5884
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 6.75e1
  variant carriers: 654
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 318
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.25e1
  variant carriers: 455
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.75e1
  variant carriers: 500
genotype depth: GenotypeDepth
  all individuals: 7207
  bin: 3.75e1
  variant carriers: 6734
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 119
genotype depth: GenotypeDepth
  all individuals: 13497
  bin: 2.25e1
  variant carriers: 4146
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 221
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 4.25e1
  variant carriers: 162
num of homozygotes: 13976
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

2-47277208-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47277208
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47277208
    reference: chr 2
allele count: 1
allele frequency: 8.39785686692756e-6
allele num: 119078
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.955+23A>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-3150T>A
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000496991
  gene symbol: TTC7A
  hgvsc: ENST00000496991.3:n.215+23A>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.430+23A>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1421+23A>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2089+23A>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1124+23A>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1766+23A>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1915+23A>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*866+23A>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2017+23A>T
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36683
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ

2-47277213-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47277213
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47277213
    reference: chr 2
allele count: 1
allele frequency: 8.403926314374075e-6
allele num: 118992
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2089+28G>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1766+28G>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-3155C>A
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1124+28G>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1421+28G>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000496991
  gene symbol: TTC7A
  hgvsc: ENST00000496991.3:n.215+28G>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1915+28G>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*866+28G>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2017+28G>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.430+28G>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.955+28G>T
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30202
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

2-47277216-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47277216
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47277216
    reference: chr 2
allele count: 1
allele frequency: 8.419067504083248e-6
allele num: 118778
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1766+31C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.955+31C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000496991
  gene symbol: TTC7A
  hgvsc: ENST00000496991.3:n.215+31C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*866+31C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1915+31C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1124+31C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2089+31C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-3158G>A
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1421+31C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2017+31C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.430+31C>T
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7402
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7438
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7085
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

2-47277217-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47277217
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47277217
    reference: chr 2
allele count: 2
allele frequency: 1.683303314424226e-5
allele num: 118814
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.430+32A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-3159T>C
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.955+32A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2089+32A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2017+32A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1421+32A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000496991
  gene symbol: TTC7A
  hgvsc: ENST00000496991.3:n.215+32A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1766+32A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1915+32A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*866+32A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1124+32A>G
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7059
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17314
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7471
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5734
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

2-47277223-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47277223
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47277223
    reference: chr 2
allele count: 1
allele frequency: 8.447801037389967e-6
allele num: 118374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.955+38C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2017+38C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*866+38C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1766+38C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000496991
  gene symbol: TTC7A
  hgvsc: ENST00000496991.3:n.215+38C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1421+38C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-3165G>A
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1915+38C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.430+38C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1124+38C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2089+38C>T
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7763
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12187
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4570
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

2-47277233-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47277233
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47277233
    reference: chr 2
allele count: 2
allele frequency: 1.70546601858958e-5
allele num: 117270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*866+48C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1766+48C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-3175G>A
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1421+48C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.430+48C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2089+48C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000496991
  gene symbol: TTC7A
  hgvsc: ENST00000496991.3:n.215+48C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1915+48C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1124+48C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2017+48C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.955+48C>T
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7744
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13633
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15848
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2310
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD

2-47278837-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47278837
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47278837
    reference: chr 2
allele count: 5
allele frequency: 4.561544356457322e-5
allele num: 109612
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.956-48C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1422-48C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1125-48C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1767-48C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2018-48C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*867-48C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.431-48C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2090-48C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1916-48C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-4779G>A
  variant of: http://identifiers.org/hgnc/26850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3950
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1967
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5586
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

2-47278838-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47278838
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47278838
    reference: chr 2
allele count: 1
allele frequency: 9.114440920193956e-6
allele num: 109716
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2090-47G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1422-47G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-4780C>T
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1916-47G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2018-47G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.956-47G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1767-47G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1125-47G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*867-47G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.431-47G>A
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5583
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1419
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31758
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

2-47278857-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47278857
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47278857
    reference: chr 2
allele count: 1
allele frequency: 9.040610422015694e-6
allele num: 110612
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2090-28G>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*867-28G>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1767-28G>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1422-28G>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1916-28G>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-4799C>G
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.431-28G>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2018-28G>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.956-28G>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1125-28G>C
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3941
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5582
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10506
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

2-47278860-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47278860
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47278860
    reference: chr 2
allele count: 1
allele frequency: 9.02967150055081e-6
allele num: 110746
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*867-25C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1422-25C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-4802G>A
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1767-25C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1916-25C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2018-25C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1125-25C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2090-25C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.431-25C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.956-25C>T
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9844
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5582
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23143
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-47278861-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47278861
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47278861
    reference: chr 2
allele count: 1
allele frequency: 8.999766006083841e-6
allele num: 111114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1125-24G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.431-24G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.956-24G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2090-24G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*867-24G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2018-24G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1767-24G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-4803C>T
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1422-24G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1916-24G>A
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5581
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

2-47278864-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47278864
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47278864
    reference: chr 2
allele count: 12
allele frequency: 1.07625248883388e-4
allele num: 111498
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1916-21T>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.431-21T>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2090-21T>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.956-21T>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2018-21T>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1767-21T>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1125-21T>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1422-21T>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-4806A>C
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*867-21T>G
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5583
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23171
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8106
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3607
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD

2-47278866-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47278866
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47278866
    reference: chr 2
allele count: 142
allele frequency: 1.271854399541416e-3
allele num: 111648
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2018-19G>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2090-19G>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1916-19G>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1125-19G>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*867-19G>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1422-19G>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.956-19G>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.431-19G>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-4808C>A
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1767-19G>T
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10473
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3578
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23213
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5595
  bin: 9.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8106
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10496
  bin: 9.75e1
  variant carriers: 137
num of homozygotes: 1
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

2-47278866-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47278866
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47278866
    reference: chr 2
allele count: 9
allele frequency: 8.061049011177988e-5
allele num: 111648
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1422-19G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2018-19G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-4808C>T
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1767-19G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*867-19G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.431-19G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1125-19G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1916-19G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.956-19G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2090-19G>A
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10473
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5595
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 23213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10496
  bin: 9.75e1
  variant carriers: 9
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD

2-47278871-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47278871
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47278871
    reference: chr 2
allele count: 1
allele frequency: 8.866977602014578e-6
allele num: 112778
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1767-14C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*867-14C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1916-14C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2090-14C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2018-14C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1125-14C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1422-14C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.431-14C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-4813G>A
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.956-14C>T
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5521
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33611
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff

2-47278876-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47278876
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47278876
    reference: chr 2
allele count: 1
allele frequency: 8.82674857889348e-6
allele num: 113292
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2018-9G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-4818C>T
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.431-9G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2090-9G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*867-9G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1916-9G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.956-9G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1125-9G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1767-9G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1422-9G>A
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23446
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5520
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11382
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33729
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3110
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

2-47278879-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47278879
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47278879
    reference: chr 2
allele count: 1
allele frequency: 8.798479622721194e-6
allele num: 113656
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2018-6C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*867-6C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1767-6C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1125-6C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1916-6C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2090-6C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-4821G>A
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.431-6C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.956-6C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1422-6C>T
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5520
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 2.75e1
  variant carriers: 0
hgvs: c.2018-6C>T
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

2-47278882-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47278882
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47278882
    reference: chr 2
allele count: 12
allele frequency: 1.052871707582431e-4
allele num: 113974
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1916-3C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2090-3C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.431-3C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1422-3C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1125-3C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-4824G>A
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*867-3C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.956-3C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1767-3C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2018-3C>T
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5520
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23613
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11633
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 3.75e1
  variant carriers: 0
hgvs: c.2018-3C>T
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

2-47278890-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47278890
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47278890
    reference: chr 2
allele count: 2
allele frequency: 1.744743958824043e-5
allele num: 114630
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1130C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1921C>T
  hgvsp: ENSP00000386307.1:p.Arg641Trp
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2095C>T
  hgvsp: ENSP00000378320.2:p.Arg699Trp
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1772C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-4832G>A
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.961C>T
  hgvsp: ENSP00000263737.6:p.Arg321Trp
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1427C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.436C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2023C>T
  hgvsp: ENSP00000316699.5:p.Arg675Trp
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*872C>T
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10359
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Arg675Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

2-47278891-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47278891
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47278891
    reference: chr 2
allele count: 4
allele frequency: 3.481469876581893e-5
allele num: 114894
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1428G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1922G>A
  hgvsp: ENSP00000386307.1:p.Arg641Gln
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1131G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.437G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1773G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*873G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2096G>A
  hgvsp: ENSP00000378320.2:p.Arg699Gln
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2024G>A
  hgvsp: ENSP00000316699.5:p.Arg675Gln
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-4833C>T
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.962G>A
  hgvsp: ENSP00000263737.6:p.Arg321Gln
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5509
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg675Gln
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-47278893-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47278893
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47278893
    reference: chr 2
allele count: 2
allele frequency: 1.737106328278354e-5
allele num: 115134
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-4835G>A
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2026C>T
  hgvsp: ENSP00000316699.5:p.Arg676Trp
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1775C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.439C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1430C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.964C>T
  hgvsp: ENSP00000263737.6:p.Arg322Trp
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1924C>T
  hgvsp: ENSP00000386307.1:p.Arg642Trp
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2098C>T
  hgvsp: ENSP00000378320.2:p.Arg700Trp
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*875C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1133C>T
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11752
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5511
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2244
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg676Trp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

2-47278894-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47278894
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47278894
    reference: chr 2
allele count: 1
allele frequency: 8.653363562416712e-6
allele num: 115562
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1431G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*876G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2099G>A
  hgvsp: ENSP00000378320.2:p.Arg700Gln
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2027G>A
  hgvsp: ENSP00000316699.5:p.Arg676Gln
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.440G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1925G>A
  hgvsp: ENSP00000386307.1:p.Arg642Gln
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1776G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1134G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-4836C>T
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.965G>A
  hgvsp: ENSP00000263737.6:p.Arg322Gln
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg676Gln
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

2-47278894-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47278894
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47278894
    reference: chr 2
allele count: 1
allele frequency: 8.653363562416712e-6
allele num: 115562
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1431G>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*876G>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1776G>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-4836C>G
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2099G>C
  hgvsp: ENSP00000378320.2:p.Arg700Pro
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2027G>C
  hgvsp: ENSP00000316699.5:p.Arg676Pro
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1925G>C
  hgvsp: ENSP00000386307.1:p.Arg642Pro
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1134G>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.440G>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.965G>C
  hgvsp: ENSP00000263737.6:p.Arg322Pro
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2366
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg676Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ

2-47278901-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47278901
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47278901
    reference: chr 2
allele count: 12471
allele frequency: 1.070802994916884e-1
allele num: 116464
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.972G>A
  hgvsp: ENST00000263737.6:c.972G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2034G>A
  hgvsp: ENST00000319190.5:c.2034G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2106G>A
  hgvsp: ENST00000394850.2:c.2106G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1932G>A
  hgvsp: ENST00000409245.1:c.1932G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1783G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.447G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*883G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1438G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-4843C>T
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1141G>A
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 7.5e0
  variant carriers: 115
genotype depth: GenotypeDepth
  all individuals: 12219
  bin: 2.25e1
  variant carriers: 219
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.75e1
  variant carriers: 184
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 334
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 5.25e1
  variant carriers: 195
genotype depth: GenotypeDepth
  all individuals: 24267
  bin: 2.75e1
  variant carriers: 256
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.25e1
  variant carriers: 272
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 4.25e1
  variant carriers: 171
genotype depth: GenotypeDepth
  all individuals: 8252
  bin: 3.25e1
  variant carriers: 236
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 2.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 5.75e1
  variant carriers: 226
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 1.25e1
  variant carriers: 162
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.25e1
  variant carriers: 385
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 3.75e1
  variant carriers: 205
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 158
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 9.25e1
  variant carriers: 726
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 8.25e1
  variant carriers: 596
genotype depth: GenotypeDepth
  all individuals: 5661
  bin: 9.75e1
  variant carriers: 5579
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.75e1
  variant carriers: 452
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.75e1
  variant carriers: 616
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.75e1
  variant carriers: 8
hgvs: p.Ser678Ser
num of homozygotes: 1505
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-47278907-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47278907
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47278907
    reference: chr 2
allele count: 1
allele frequency: 8.558273282782466e-6
allele num: 116846
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2112C>A
  hgvsp: ENST00000394850.2:c.2112C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.453C>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1789C>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1147C>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-4849G>T
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1444C>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2040C>A
  hgvsp: ENST00000319190.5:c.2040C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1938C>A
  hgvsp: ENST00000409245.1:c.1938C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.978C>A
  hgvsp: ENST00000263737.6:c.978C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*889C>A
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile680Ile
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

2-47278907-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47278907
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47278907
    reference: chr 2
allele count: 1
allele frequency: 8.558273282782466e-6
allele num: 116846
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1938C>T
  hgvsp: ENST00000409245.1:c.1938C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.978C>T
  hgvsp: ENST00000263737.6:c.978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-4849G>A
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2112C>T
  hgvsp: ENST00000394850.2:c.2112C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*889C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1147C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2040C>T
  hgvsp: ENST00000319190.5:c.2040C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.453C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1789C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1444C>T
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9925
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile680Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD

2-47278908-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47278908
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47278908
    reference: chr 2
allele count: 2
allele frequency: 1.708992719691014e-5
allele num: 117028
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.979G>A
  hgvsp: ENSP00000263737.6:p.Ala327Thr
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1445G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2113G>A
  hgvsp: ENSP00000378320.2:p.Ala705Thr
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2041G>A
  hgvsp: ENSP00000316699.5:p.Ala681Thr
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1939G>A
  hgvsp: ENSP00000386307.1:p.Ala647Thr
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.454G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*890G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1148G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1790G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-4850C>T
  variant of: http://identifiers.org/hgnc/26850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ala681Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

2-47278910-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47278910
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47278910
    reference: chr 2
allele count: 1
allele frequency: 8.536356341659126e-6
allele num: 117146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-4852G>A
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.981C>T
  hgvsp: ENST00000263737.6:c.981C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*892C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2043C>T
  hgvsp: ENST00000319190.5:c.2043C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1941C>T
  hgvsp: ENST00000409245.1:c.1941C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1447C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2115C>T
  hgvsp: ENST00000394850.2:c.2115C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1792C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.456C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1150C>T
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala681Ala
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-47278911-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47278911
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47278911
    reference: chr 2
allele count: 3
allele frequency: 2.557719196535143e-5
allele num: 117292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.982G>A
  hgvsp: ENSP00000263737.6:p.Ala328Thr
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1448G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1942G>A
  hgvsp: ENSP00000386307.1:p.Ala648Thr
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2116G>A
  hgvsp: ENSP00000378320.2:p.Ala706Thr
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-4853C>T
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2044G>A
  hgvsp: ENSP00000316699.5:p.Ala682Thr
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1151G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1793G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*893G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.457G>A
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30153
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala682Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

2-47278917-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47278917
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47278917
    reference: chr 2
allele count: 4
allele frequency: 3.406110562348854e-5
allele num: 117436
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*899C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1454C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1157C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1799C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2050C>T
  hgvsp: ENSP00000316699.5:p.Arg684Trp
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1948C>T
  hgvsp: ENSP00000386307.1:p.Arg650Trp
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.988C>T
  hgvsp: ENSP00000263737.6:p.Arg330Trp
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-4859G>A
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.463C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2122C>T
  hgvsp: ENSP00000378320.2:p.Arg708Trp
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14919
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg684Trp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

2-47278918-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47278918
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47278918
    reference: chr 2
allele count: 4
allele frequency: 3.402749421532598e-5
allele num: 117552
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2123G>A
  hgvsp: ENSP00000378320.2:p.Arg708Gln
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1949G>A
  hgvsp: ENSP00000386307.1:p.Arg650Gln
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1800G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.989G>A
  hgvsp: ENSP00000263737.6:p.Arg330Gln
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2051G>A
  hgvsp: ENSP00000316699.5:p.Arg684Gln
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1158G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*900G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.464G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-4860C>T
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1455G>A
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9942
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Arg684Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

2-47278919-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47278919
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47278919
    reference: chr 2
allele count: 3
allele frequency: 2.548939641109299e-5
allele num: 117696
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2124G>C
  hgvsp: ENST00000394850.2:c.2124G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1456G>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1950G>C
  hgvsp: ENST00000409245.1:c.1950G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2052G>C
  hgvsp: ENST00000319190.5:c.2052G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.465G>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1159G>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*901G>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.990G>C
  hgvsp: ENST00000263737.6:c.990G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-4861C>G
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1801G>C
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8033
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg684Arg
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

2-47278923-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47278923
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47278923
    reference: chr 2
allele count: 1
allele frequency: 8.468404383246109e-6
allele num: 118086
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2056G>A
  hgvsp: ENSP00000316699.5:p.Glu686Lys
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1163G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.469G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*905G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2128G>A
  hgvsp: ENSP00000378320.2:p.Glu710Lys
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1805G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1954G>A
  hgvsp: ENSP00000386307.1:p.Glu652Lys
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1460G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-4865C>T
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.994G>A
  hgvsp: ENSP00000263737.6:p.Glu332Lys
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu686Lys
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum

2-47278924-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47278924
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47278924
    reference: chr 2
allele count: 4
allele frequency: 3.393051031487514e-5
allele num: 117888
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*906A>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2057A>T
  hgvsp: ENSP00000316699.5:p.Glu686Val
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.995A>T
  hgvsp: ENSP00000263737.6:p.Glu332Val
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1955A>T
  hgvsp: ENSP00000386307.1:p.Glu652Val
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2129A>T
  hgvsp: ENSP00000378320.2:p.Glu710Val
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1164A>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1461A>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1806A>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.470A>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-4866T>A
  variant of: http://identifiers.org/hgnc/26850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9917
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu686Val
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS

2-47278928-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47278928
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47278928
    reference: chr 2
allele count: 51
allele frequency: 4.307723494830732e-4
allele num: 118392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*910G>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-4870C>G
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1168G>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2061G>C
  hgvsp: ENSP00000316699.5:p.Glu687Asp
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.474G>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.999G>C
  hgvsp: ENSP00000263737.6:p.Glu333Asp
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2133G>C
  hgvsp: ENSP00000378320.2:p.Glu711Asp
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1465G>C
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1959G>C
  hgvsp: ENSP00000386307.1:p.Glu653Asp
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1810G>C
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15581
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9885
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1842
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu687Asp
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

2-47278932-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47278932
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47278932
    reference: chr 2
allele count: 1
allele frequency: 8.430850166930833e-6
allele num: 118612
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.1003A>G
  hgvsp: ENSP00000263737.6:p.Met335Val
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*914A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1963A>G
  hgvsp: ENSP00000386307.1:p.Met655Val
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2137A>G
  hgvsp: ENSP00000378320.2:p.Met713Val
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2065A>G
  hgvsp: ENSP00000316699.5:p.Met689Val
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1469A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1172A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.478A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1814A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-4874T>C
  variant of: http://identifiers.org/hgnc/26850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30391
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Met689Val
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-47278936-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47278936
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47278936
    reference: chr 2
allele count: 1
allele frequency: 8.426019548365353e-6
allele num: 118680
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-4878G>T
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2141C>A
  hgvsp: ENSP00000378320.2:p.Ser714Ter
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.1007C>A
  hgvsp: ENSP00000263737.6:p.Ser336Ter
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2069C>A
  hgvsp: ENSP00000316699.5:p.Ser690Ter
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.482C>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1176C>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*918C>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1473C>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1967C>A
  hgvsp: ENSP00000386307.1:p.Ser656Ter
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1818C>A
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30377
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser690Ter
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

2-47278938-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47278938
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47278938
    reference: chr 2
allele count: 1
allele frequency: 8.423038695439767e-6
allele num: 118722
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1820G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1969G>A
  hgvsp: ENSP00000386307.1:p.Glu657Lys
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.484G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1178G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2143G>A
  hgvsp: ENSP00000378320.2:p.Glu715Lys
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-4880C>T
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*920G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1475G>A
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.1009G>A
  hgvsp: ENSP00000263737.6:p.Glu337Lys
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2071G>A
  hgvsp: ENSP00000316699.5:p.Glu691Lys
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 15911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30343
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44930
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu691Lys
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

2-47278941-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47278941
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47278941
    reference: chr 2
allele count: 1
allele frequency: 8.423180592991915e-6
allele num: 118720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*923C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1972C>T
  hgvsp: ENST00000409245.1:c.1972C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.1012C>T
  hgvsp: ENST00000263737.6:c.1012C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.487C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1823C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1478C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2074C>T
  hgvsp: ENST00000319190.5:c.2074C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1181C>T
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2146C>T
  hgvsp: ENST00000394850.2:c.2146C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-4883G>A
  variant of: http://identifiers.org/hgnc/26850
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30288
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu692Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

2-47278947-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47278947
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 47278947
    reference: chr 2
allele count: 5
allele frequency: 4.212512848164187e-5
allele num: 118694
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000239605
  ensembl transcript: ENST00000496939
  gene symbol: C2orf61
  hgvsc: ENST00000496939.1:n.416-4889T>C
  variant of: http://identifiers.org/hgnc/26850
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386521
  ensembl transcript: ENST00000409825
  gene symbol: TTC7A
  hgvsc: ENST00000409825.1:c.*1829A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000491786
  gene symbol: TTC7A
  hgvsc: ENST00000491786.1:n.1484A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000378320
  ensembl transcript: ENST00000394850
  gene symbol: TTC7A
  hgvsc: ENST00000394850.2:c.2152A>G
  hgvsp: ENSP00000378320.2:p.Met718Val
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000386307
  ensembl transcript: ENST00000409245
  gene symbol: TTC7A
  hgvsc: ENST00000409245.1:c.1978A>G
  hgvsp: ENSP00000386307.1:p.Met660Val
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484337
  gene symbol: TTC7A
  hgvsc: ENST00000484337.1:n.493A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000316699
  ensembl transcript: ENST00000319190
  gene symbol: TTC7A
  hgvsc: ENST00000319190.5:c.2080A>G
  hgvsp: ENSP00000316699.5:p.Met694Val
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000393022
  ensembl transcript: ENST00000441914
  gene symbol: TTC7A
  hgvsc: ENST00000441914.1:c.*929A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000068724
  ensembl transcript: ENST00000484061
  gene symbol: TTC7A
  hgvsc: ENST00000484061.1:n.1187A>G
  variant of: http://identifiers.org/hgnc/19750
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000068724
  ensembl protein: ENSP00000263737
  ensembl transcript: ENST00000263737
  gene symbol: TTC7A
  hgvsc: ENST00000263737.6:c.1018A>G
  hgvsp: ENSP00000263737.6:p.Met340Val
  variant of: http://identifiers.org/hgnc/19750
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30154
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9735
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44757
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met694Val
num of homozygotes: 0
reference allele: A

GenotypeDepth
all individuals: 26878
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 21
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4873
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2589
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1252
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25145
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1557
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6025
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4213
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2726
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1886
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 830
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1189
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2381
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3293
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5812
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.734913793103448e-5
allele num: 14848
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.293048374880627e-5
allele num: 60734
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.671179883945841e-5
allele num: 10340
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.455e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.75e0

DP
type: SiteQuality
SIO_000300: 1.289682e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

FS
type: SiteQuality
SIO_000300: 1.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 130
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8165
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 830
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1189
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1886
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2589
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3293
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2381
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1557
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6025
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4213
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4873
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 729
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1252
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 717
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25145
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2726
bin: 9.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14848
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60734
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.75e0

DP
type: SiteQuality
SIO_000300: 1.289682e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

FS
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 1.455e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

GenotypeDepth
all individuals: 21
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 6.75e1
variant carriers: 3

GenotypeDepth
all individuals: 279
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 385
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 306
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1979
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2483
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5797
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5146
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2761
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3721
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 996
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 948
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2778
bin: 9.75e1
variant carriers: 47

GenotypeQuality
all individuals: 27205
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2364
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1634
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 850
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.637626097209485e-5
allele num: 61064
num of homozygotes: 0

East Asian
type: Population
allele count: 39
allele frequency: 5.078125e-3
allele num: 7680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5832
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9310
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.596928982725528e-5
allele num: 10420
num of homozygotes: 0

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

South Asian
type: Population
allele count: 6
allele frequency: 4.019292604501608e-4
allele num: 14928
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.18e0

DP
type: SiteQuality
SIO_000300: 1.310482e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.68e-1

QD
type: SiteQuality
SIO_000300: 1.403e1

GenotypeDepth
all individuals: 747
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1541
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1236
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 170
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 131
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37999
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1973
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6706
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1708
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2520
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3103
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 965
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2790
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 199
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6322
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.06044376434583e-5
allele num: 65350
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10042
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15942
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.79e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.64e-1

FS
type: SiteQuality
SIO_000300: 9.364000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

QD
type: SiteQuality
SIO_000300: 1.349e1

DP
type: SiteQuality
SIO_000300: 1.480425e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.93e-1

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2007
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521838380763963e-5
allele num: 65710
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11382
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10138
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.57e-1

FS
type: SiteQuality
SIO_000300: 1.118e0

InbreedingCoeff
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SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.53e-1

QD
type: SiteQuality
SIO_000300: 9.48e0

DP
type: SiteQuality
SIO_000300: 1.493437e6

BaseQRankSum
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SIO_000300: -1.499e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.23e-1

GenotypeDepth
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variant carriers: 0

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

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

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: 10154
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16090
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65784
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.564945226917058e-4
allele num: 6390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.495911e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.252e1

FS
type: SiteQuality
SIO_000300: 2.996e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.982e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.03e-1

GenotypeDepth
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bin: 4.25e1
variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 909
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66034
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 7.827788649706458e-4
allele num: 10220
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16182
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.415e1

FS
type: SiteQuality
SIO_000300: 1.465e0

BaseQRankSum
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SIO_000300: 3.6e0

DP
type: SiteQuality
SIO_000300: 1.505602e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.03e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2008
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variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.784735812133073e-5
allele num: 10220
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66034
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.6e0

DP
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.465e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508477644361311e-5
allele num: 66292
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16280
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.514252e6

MQRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.915e1

QD
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VQSLOD
type: SiteQuality
SIO_000300: 5.679999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.95e-1

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 15

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

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

South Asian
type: Population
allele count: 11
allele frequency: 6.7171470444553e-4
allele num: 16376
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.516031913292187e-5
allele num: 66430
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.939e1

BaseQRankSum
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MQRankSum
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QD
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ClippingRankSum
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SIO_000300: 5.7e-2

InbreedingCoeff
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FS
type: SiteQuality
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DP
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SIO_000300: 1.522161e6

VQSLOD
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SIO_000300: 3.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.46e-1

GenotypeDepth
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variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66454
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.100536847242558e-5
allele num: 16392
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
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SIO_000300: 1.167e1

DP
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SIO_000300: 1.523159e6

FS
type: SiteQuality
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VQSLOD
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SIO_000300: 9.379999999999999e-1

ClippingRankSum
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SIO_000300: -2.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
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SIO_000300: 1.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66532
num of homozygotes: 0

East Asian
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allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

African
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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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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

QD
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SIO_000300: 2.937e1

InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
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SIO_000300: 5.891e1

FS
type: SiteQuality
SIO_000300: 9.1e-1

BaseQRankSum
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SIO_000300: -1.598e0

ReadPosRankSum
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SIO_000300: 1.96e0

VQSLOD
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SIO_000300: -3.435e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.02e-1

DP
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SIO_000300: 1.52706e6

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66556
num of homozygotes: 0

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

African
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allele count: 11
allele frequency: 1.061571125265393e-3
allele num: 10362
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 900
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.95e-1

VQSLOD
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SIO_000300: 2.47e0

ReadPosRankSum
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MQRankSum
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FS
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BaseQRankSum
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MQ
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SIO_000300: 5.962e1

InbreedingCoeff
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SIO_000300: -2.0e-4

DP
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SIO_000300: 1.528293e6

QD
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502403846153846e-5
allele num: 66560
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
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SIO_000300: 9.795999999999999e0

ClippingRankSum
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QD
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VQSLOD
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ReadPosRankSum
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SIO_000300: -4.1e-1

BaseQRankSum
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DP
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SIO_000300: 1.528602e6

MQRankSum
type: SiteQuality
SIO_000300: 4.42e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

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

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

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

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

East Asian
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ReadPosRankSum
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SIO_000300: -4.37e-1

VQSLOD
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InbreedingCoeff
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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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FS
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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European (Finnish)
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African
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Other
type: Population
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
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FS
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InbreedingCoeff
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QD
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VQSLOD
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BaseQRankSum
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DP
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MQ
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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South Asian
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African
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Latino
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European (Non-Finnish)
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allele num: 66576
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East Asian
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DP
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FS
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InbreedingCoeff
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VQSLOD
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MQ
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QD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3213
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
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GenotypeQuality
all individuals: 2672
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 982
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7185
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66574
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.529684e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: -1.846e0

FS
type: SiteQuality
SIO_000300: 6.062e0

QD
type: SiteQuality
SIO_000300: 6.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.229e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.62e0

GenotypeQuality
all individuals: 40119
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2663
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 112
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2820
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
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GenotypeQuality
all individuals: 152
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 4.25e1
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GenotypeQuality
all individuals: 831
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7127
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2013
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 979
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3201
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.074596039363382e-5
allele num: 16462
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66556
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.913e0

MQRankSum
type: SiteQuality
SIO_000300: -9.7e-2

DP
type: SiteQuality
SIO_000300: 1.529419e6

MQ
type: SiteQuality
SIO_000300: 6.017e1

VQSLOD
type: SiteQuality
SIO_000300: -1.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.4e-2

FS
type: SiteQuality
SIO_000300: 8.84e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 5.06e0

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

GenotypeQuality
all individuals: 2819
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
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GenotypeQuality
all individuals: 833
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variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3199
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GenotypeQuality
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GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 981
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variant carriers: 0

GenotypeQuality
all individuals: 359
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 2015
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2658
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7128
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40155
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66552
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.668515950069348e-5
allele num: 11536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.528311e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.27e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

FS
type: SiteQuality
SIO_000300: 4.156e0

QD
type: SiteQuality
SIO_000300: 8.619999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -8.01e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

GenotypeQuality
all individuals: 380
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40018
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2010
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2658
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3198
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7122
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2818
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 982
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
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: 0
allele frequency: 0.0e0
allele num: 10374
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: 6.076072426783327e-5
allele num: 16458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66546
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.0e-3

QD
type: SiteQuality
SIO_000300: 9.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.527603e6

FS
type: SiteQuality
SIO_000300: 3.873e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.118e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.53e-1

GenotypeQuality
all individuals: 825
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7057
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2628
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 105
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1993
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 977
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variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3160
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3050
bin: 9.75e1
variant carriers: 245

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

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39184
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 242
bin: 2.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.928268414963363e-4
allele num: 10372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 229
allele frequency: 3.443609022556391e-3
allele num: 66500
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 7
allele frequency: 1.065773447015834e-3
allele num: 6568
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.336513443191674e-4
allele num: 11530
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.444444444444444e-3
allele num: 900
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.919e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.05e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-2

QD
type: SiteQuality
SIO_000300: 1.384e1

VQSLOD
type: SiteQuality
SIO_000300: 3.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

DP
type: SiteQuality
SIO_000300: 1.529863e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.52e-1

GenotypeDepth
all individuals: 428
bin: 4.75e1
variant carriers: 3

GenotypeDepth
all individuals: 138
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 49
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2908
bin: 9.75e1
variant carriers: 32

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 149
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variant carriers: 0

GenotypeQuality
all individuals: 199
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variant carriers: 0

GenotypeQuality
all individuals: 430
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variant carriers: 0

GenotypeQuality
all individuals: 298
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variant carriers: 0

GenotypeQuality
all individuals: 353
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variant carriers: 0

GenotypeQuality
all individuals: 3176
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variant carriers: 0

GenotypeQuality
all individuals: 623
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variant carriers: 0

GenotypeQuality
all individuals: 2025
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7038
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 833
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2630
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 31
allele frequency: 4.662495487907592e-4
allele num: 66488
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 6.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.477e0

QD
type: SiteQuality
SIO_000300: 1.244e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e-1

DP
type: SiteQuality
SIO_000300: 1.524721e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.4e-2

GenotypeDepth
all individuals: 1135
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 186
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GenotypeQuality
all individuals: 2019
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variant carriers: 0

GenotypeQuality
all individuals: 835
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GenotypeQuality
all individuals: 2888
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2611
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GenotypeQuality
all individuals: 370
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variant carriers: 0

GenotypeQuality
all individuals: 501
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variant carriers: 0

GenotypeQuality
all individuals: 37032
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variant carriers: 0

GenotypeQuality
all individuals: 265
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GenotypeQuality
all individuals: 987
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GenotypeQuality
all individuals: 951
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
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variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3169
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6967
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.532162333162604e-5
allele num: 66382
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.157e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.213e-1

DP
type: SiteQuality
SIO_000300: 1.51443e6

MQRankSum
type: SiteQuality
SIO_000300: -7.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.761e1

QD
type: SiteQuality
SIO_000300: 1.024e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.61e-1

GenotypeQuality
all individuals: 868
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 990
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variant carriers: 0

GenotypeQuality
all individuals: 2903
bin: 9.75e1
variant carriers: 22

GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 527
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variant carriers: 0

GenotypeQuality
all individuals: 819
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GenotypeQuality
all individuals: 836
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variant carriers: 0

GenotypeQuality
all individuals: 3165
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variant carriers: 0

GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 6922
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GenotypeQuality
all individuals: 2015
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2604
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1071
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36308
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.691117677733357e-5
allele num: 11506
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.877453969028168e-4
allele num: 16402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.014499743767522e-5
allele num: 66346
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: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

East Asian
type: Population
allele count: 10
allele frequency: 1.157407407407407e-3
allele num: 8640
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.06e-1

FS
type: SiteQuality
SIO_000300: 1.456e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e-1

MQ
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SIO_000300: 5.923e1

DP
type: SiteQuality
SIO_000300: 1.511556e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.741e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.193e1

GenotypeQuality
all individuals: 609
bin: 3.75e1
variant carriers: 150

GenotypeQuality
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bin: 7.5e0
variant carriers: 99

GenotypeQuality
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variant carriers: 36192

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 793

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 145

East Asian
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allele count: 6400
allele frequency: 7.506450856204551e-1
allele num: 8526
num of homozygotes: 2395

Other
type: Population
allele count: 419
allele frequency: 4.739819004524887e-1
allele num: 884
num of homozygotes: 103

African
type: Population
allele count: 7675
allele frequency: 7.490728089010346e-1
allele num: 10246
num of homozygotes: 2871

European (Non-Finnish)
type: Population
allele count: 25098
allele frequency: 3.831053852729271e-1
allele num: 65512
num of homozygotes: 4687

Latino
type: Population
allele count: 6164
allele frequency: 5.475217623023627e-1
allele num: 11258
num of homozygotes: 1644

European (Finnish)
type: Population
allele count: 2545
allele frequency: 3.961706102117061e-1
allele num: 6424
num of homozygotes: 503

South Asian
type: Population
allele count: 7154
allele frequency: 4.384653101250306e-1
allele num: 16316
num of homozygotes: 1629

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.08e0

QD
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SIO_000300: 2.769e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e-1

MQRankSum
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SIO_000300: 8.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.774e0

DP
type: SiteQuality
SIO_000300: 2.056705e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.83e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 446
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65512
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 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: 11258
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.128953174797744e-5
allele num: 16316
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.774e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.056705e6

VQSLOD
type: SiteQuality
SIO_000300: 5.08e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-2

QD
type: SiteQuality
SIO_000300: 2.769e1

GenotypeQuality
all individuals: 597
bin: 3.75e1
variant carriers: 152

GenotypeQuality
all individuals: 458
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variant carriers: 224

GenotypeQuality
all individuals: 661
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GenotypeQuality
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GenotypeQuality
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variant carriers: 730

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 379

GenotypeQuality
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GenotypeQuality
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variant carriers: 341

GenotypeQuality
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variant carriers: 335

GenotypeQuality
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bin: 8.25e1
variant carriers: 728

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 963
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variant carriers: 802

GenotypeQuality
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variant carriers: 36231

GenotypeQuality
all individuals: 839
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GenotypeQuality
all individuals: 11420
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variant carriers: 493

African
type: Population
allele count: 7740
allele frequency: 7.55859375e-1
allele num: 10240
num of homozygotes: 2927

Latino
type: Population
allele count: 6212
allele frequency: 5.519815176826017e-1
allele num: 11254
num of homozygotes: 1668

European (Non-Finnish)
type: Population
allele count: 25154
allele frequency: 3.844061372944557e-1
allele num: 65436
num of homozygotes: 4710

South Asian
type: Population
allele count: 7182
allele frequency: 4.400735294117647e-1
allele num: 16320
num of homozygotes: 1643

East Asian
type: Population
allele count: 6432
allele frequency: 7.54752405538606e-1
allele num: 8522
num of homozygotes: 2418

European (Finnish)
type: Population
allele count: 2550
allele frequency: 3.970725630644659e-1
allele num: 6422
num of homozygotes: 505

Other
type: Population
allele count: 423
allele frequency: 4.785067873303168e-1
allele num: 884
num of homozygotes: 105

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.01e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

DP
type: SiteQuality
SIO_000300: 2.051644e6

VQSLOD
type: SiteQuality
SIO_000300: 5.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.785e1

GenotypeQuality
all individuals: 2009
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 839
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variant carriers: 0

GenotypeQuality
all individuals: 511
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1042
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variant carriers: 0

GenotypeQuality
all individuals: 185
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variant carriers: 0

GenotypeQuality
all individuals: 156
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GenotypeQuality
all individuals: 192
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GenotypeQuality
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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: 805
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GenotypeQuality
all individuals: 516
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528210770829513e-5
allele num: 65436
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16320
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

DP
type: SiteQuality
SIO_000300: 2.051644e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.01e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.785e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 44
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GenotypeQuality
all individuals: 310
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.177856301531213e-4
allele num: 8490
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10120
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11276
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65594
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.85e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.095e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.38e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: -9.747e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.34e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.551021e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.566e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 862
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.882572392965002e-5
allele num: 11258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65482
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16204
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.58e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10106
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.053341882690605e-5
allele num: 65502
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.165e0

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.505616e6

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -7.17e-1

MQ
type: SiteQuality
SIO_000300: 5.753e1

GenotypeQuality
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GenotypeQuality
all individuals: 2481
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11220
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.187353050365054e-5
allele num: 16162
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65256
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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DP
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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QD
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MQRankSum
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FS
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InbreedingCoeff
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SIO_000300: -1.1e-3

MQ
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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SIO_000300: -2.479e0

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

African
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allele frequency: 0.0e0
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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 count: 0
allele frequency: 0.0e0
allele num: 8338
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 3.091381229133177e-5
allele num: 64696
num of homozygotes: 0

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

Latino
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allele frequency: 8.736676568233443e-5
allele num: 11446
num of homozygotes: 0

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

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

African
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allele count: 3
allele frequency: 3.221649484536082e-4
allele num: 9312
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.620272853948605e-5
allele num: 61718
num of homozygotes: 0

East Asian
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allele count: 0
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Other
type: Population
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allele frequency: 0.0e0
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QD
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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DP
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MQ
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61744
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.074344649763644e-4
allele num: 9308
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.981e1

MQRankSum
type: SiteQuality
SIO_000300: 5.08e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.282e1

InbreedingCoeff
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SIO_000300: -2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.013e0

BaseQRankSum
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SIO_000300: -2.689e0

FS
type: SiteQuality
SIO_000300: 7.5e-1

DP
type: SiteQuality
SIO_000300: 2.238383e6

GenotypeQuality
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variant carriers: 0

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

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

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

African
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allele count: 1
allele frequency: 1.073883161512027e-4
allele num: 9312
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11964
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61962
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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ClippingRankSum
type: SiteQuality
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MQRankSum
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SIO_000300: 7.37e-1

DP
type: SiteQuality
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QD
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BaseQRankSum
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SIO_000300: -7.9e-2

VQSLOD
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQ
type: SiteQuality
SIO_000300: 5.979e1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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African
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.613892385655725e-5
allele num: 61962
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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East Asian
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African
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Other
type: Population
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European (Finnish)
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BaseQRankSum
type: SiteQuality
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QD
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MQ
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FS
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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East Asian
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South Asian
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allele num: 12542
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Latino
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European (Finnish)
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allele num: 6610
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European (Non-Finnish)
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allele frequency: 1.446991864690183e-4
allele num: 62198
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FS
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ReadPosRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 2.257122e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.159e0

QD
type: SiteQuality
SIO_000300: 9.210000000000001e0

GenotypeQuality
all individuals: 1427
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32810
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1464
bin: 7.25e1
variant carriers: 1

GenotypeQuality
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bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 110
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 5.25e1
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GenotypeQuality
all individuals: 587
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 214
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3481
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 234
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6309
bin: 6.75e1
variant carriers: 1

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: 8522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.21646831778707e-5
allele num: 62180
num of homozygotes: 0

African
type: Population
allele count: 134
allele frequency: 1.433461703038083e-2
allele num: 9348
num of homozygotes: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12708
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.361479413817167e-4
allele num: 11464
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.222493887530562e-3
allele num: 818
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.261703e6

MQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

FS
type: SiteQuality
SIO_000300: 2.437e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.17e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 1.324e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.54e-1

GenotypeQuality
all individuals: 32810
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1464
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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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: 1427
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.608234158893535e-5
allele num: 62180
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.722958827634333e-5
allele num: 11464
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 7.040600797934757e-4
allele num: 8522
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: 9348
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.869058860560277e-5
allele num: 12708
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.17e-2

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 2.261703e6

FS
type: SiteQuality
SIO_000300: 2.437e0

QD
type: SiteQuality
SIO_000300: 1.324e1

VQSLOD
type: SiteQuality
SIO_000300: 2.17e0

GenotypeQuality
all individuals: 612
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 516
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 80
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 49
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GenotypeQuality
all individuals: 1482
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13384
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9436
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.599744040953447e-5
allele num: 62510
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.115e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.42e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.467e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.41e0

FS
type: SiteQuality
SIO_000300: 1.127e0

QD
type: SiteQuality
SIO_000300: 1.305e1

DP
type: SiteQuality
SIO_000300: 2.261404e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

GenotypeQuality
all individuals: 95
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 233
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variant carriers: 0

GenotypeQuality
all individuals: 10372
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1436
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variant carriers: 0

GenotypeQuality
all individuals: 966
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GenotypeQuality
all individuals: 87
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 213
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GenotypeQuality
all individuals: 120
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1479
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6440
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 5.75e1
variant carriers: 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: 62656
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.275902211874272e-5
allele num: 13744
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.531e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

MQRankSum
type: SiteQuality
SIO_000300: -4.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

QD
type: SiteQuality
SIO_000300: 1.121e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-2

FS
type: SiteQuality
SIO_000300: 6.21e-1

DP
type: SiteQuality
SIO_000300: 2.266221e6

VQSLOD
type: SiteQuality
SIO_000300: 8.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

GenotypeQuality
all individuals: 79
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10372
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 235
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 109
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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: 952
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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
all individuals: 6482
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 612
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GenotypeQuality
all individuals: 1482
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variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 8.75e1
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GenotypeQuality
all individuals: 85
bin: 4.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9448
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: 840
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.593066972535525e-5
allele num: 62772
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13964
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.269982e6

QD
type: SiteQuality
SIO_000300: 1.1e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

FS
type: SiteQuality
SIO_000300: 2.318e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.84e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

GenotypeQuality
all individuals: 609
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 135
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 957
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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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
all individuals: 2641
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GenotypeQuality
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variant carriers: 12

GenotypeQuality
all individuals: 6459
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62864
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9448
num of homozygotes: 0

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

South Asian
type: Population
allele count: 12
allele frequency: 8.46620572879921e-4
allele num: 14174
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-2

DP
type: SiteQuality
SIO_000300: 2.273993e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.855e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.101e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.98e0

QD
type: SiteQuality
SIO_000300: 1.249e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 189
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GenotypeQuality
all individuals: 329
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variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63000
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.794401413235494e-5
allele num: 14718
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9436
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.170411985018727e-4
allele num: 8544
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.86e0

DP
type: SiteQuality
SIO_000300: 2.280298e6

FS
type: SiteQuality
SIO_000300: 1.1403e1

VQSLOD
type: SiteQuality
SIO_000300: -1.346e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 1.015e1

GenotypeQuality
all individuals: 216
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variant carriers: 0

GenotypeQuality
all individuals: 205
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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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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 10344
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
all individuals: 2245
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GenotypeQuality
all individuals: 209
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GenotypeQuality
all individuals: 610
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.056189269117026e-4
allele num: 9468
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.168367023636018e-5
allele num: 63124
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.740361283364789e-5
allele num: 14836
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.931e1

FS
type: SiteQuality
SIO_000300: 8.920999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -5.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.142e0

QD
type: SiteQuality
SIO_000300: 1.023e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

DP
type: SiteQuality
SIO_000300: 2.281566e6

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.8e-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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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: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 610
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variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 3.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.582278481012658e-5
allele num: 63200
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9512
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.691648822269808e-5
allele num: 14944
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.284352e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 1.1698e1

VQSLOD
type: SiteQuality
SIO_000300: -1.514e0

QD
type: SiteQuality
SIO_000300: 9.720000000000001e0

GenotypeQuality
all individuals: 6530
bin: 6.75e1
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GenotypeQuality
all individuals: 211
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 2366
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variant carriers: 0

GenotypeQuality
all individuals: 1503
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15120
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.577187559144533e-5
allele num: 63404
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.732e0

QD
type: SiteQuality
SIO_000300: 1.214e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.64e-1

DP
type: SiteQuality
SIO_000300: 2.288234e6

FS
type: SiteQuality
SIO_000300: 1.4375e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.963e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
all individuals: 240
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variant carriers: 0

GenotypeQuality
all individuals: 614
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variant carriers: 0

GenotypeQuality
all individuals: 10334
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15120
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.577187559144533e-5
allele num: 63404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9556
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.214e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.732e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

FS
type: SiteQuality
SIO_000300: 1.4375e1

VQSLOD
type: SiteQuality
SIO_000300: -1.963e0

DP
type: SiteQuality
SIO_000300: 2.288234e6

MQ
type: SiteQuality
SIO_000300: 5.981e1

GenotypeQuality
all individuals: 34981
bin: 6.25e1
variant carriers: 10

GenotypeQuality
all individuals: 195
bin: 8.75e1
variant carriers: 23

GenotypeQuality
all individuals: 197
bin: 9.25e1
variant carriers: 20

GenotypeQuality
all individuals: 75
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variant carriers: 14

GenotypeQuality
all individuals: 552
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variant carriers: 5

GenotypeQuality
all individuals: 97
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variant carriers: 17

GenotypeQuality
all individuals: 264
bin: 3.25e1
variant carriers: 7

GenotypeQuality
all individuals: 92
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 6435
bin: 6.75e1
variant carriers: 18

GenotypeQuality
all individuals: 84
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variant carriers: 14

GenotypeQuality
all individuals: 91
bin: 1.25e1
variant carriers: 9

GenotypeQuality
all individuals: 89
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variant carriers: 13

GenotypeQuality
all individuals: 100
bin: 4.75e1
variant carriers: 10

GenotypeQuality
all individuals: 568
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variant carriers: 19

GenotypeQuality
all individuals: 1396
bin: 7.75e1
variant carriers: 26

GenotypeQuality
all individuals: 11569
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variant carriers: 10846

GenotypeQuality
all individuals: 1916
bin: 2.25e1
variant carriers: 11

GenotypeQuality
all individuals: 1469
bin: 7.25e1
variant carriers: 19

South Asian
type: Population
allele count: 1429
allele frequency: 9.156734589260541e-2
allele num: 15606
num of homozygotes: 69

East Asian
type: Population
allele count: 4015
allele frequency: 4.705813408345054e-1
allele num: 8532
num of homozygotes: 944

European (Non-Finnish)
type: Population
allele count: 2364
allele frequency: 3.710097617627672e-2
allele num: 63718
num of homozygotes: 62

African
type: Population
allele count: 1585
allele frequency: 1.642827529021559e-1
allele num: 9648
num of homozygotes: 137

European (Finnish)
type: Population
allele count: 532
allele frequency: 8.065494238932687e-2
allele num: 6596
num of homozygotes: 28

Other
type: Population
allele count: 96
allele frequency: 1.108545034642032e-1
allele num: 866
num of homozygotes: 7

Latino
type: Population
allele count: 2450
allele frequency: 2.13080535745347e-1
allele num: 11498
num of homozygotes: 258

VQSLOD
type: SiteQuality
SIO_000300: 5.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-2

FS
type: SiteQuality
SIO_000300: 2.134e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.935e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.41e-1

QD
type: SiteQuality
SIO_000300: 1.566e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

DP
type: SiteQuality
SIO_000300: 2.322471e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.459e-1

GenotypeQuality
all individuals: 225
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42909
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variant carriers: 0

GenotypeQuality
all individuals: 100
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variant carriers: 0

GenotypeQuality
all individuals: 106
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variant carriers: 0

GenotypeQuality
all individuals: 183
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GenotypeQuality
all individuals: 266
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GenotypeQuality
all individuals: 1857
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 7977
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 959
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GenotypeQuality
all individuals: 194
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GenotypeQuality
all individuals: 671
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GenotypeQuality
all individuals: 1710
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GenotypeQuality
all individuals: 207
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GenotypeQuality
all individuals: 221
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15786
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.565778348416998e-5
allele num: 63866
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

DP
type: SiteQuality
SIO_000300: 1.600863e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.399999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.598e1

FS
type: SiteQuality
SIO_000300: 7.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.84e0

MQRankSum
type: SiteQuality
SIO_000300: -1.051e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

GenotypeQuality
all individuals: 671
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variant carriers: 0

GenotypeQuality
all individuals: 100
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 959
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42909
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63866
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.695652173913044e-5
allele num: 11500
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15786
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.600863e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.399999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

VQSLOD
type: SiteQuality
SIO_000300: 9.74e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.051e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

FS
type: SiteQuality
SIO_000300: 7.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.84e0

QD
type: SiteQuality
SIO_000300: 1.598e1

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: 265
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GenotypeQuality
all individuals: 668
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GenotypeQuality
all individuals: 1906
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GenotypeQuality
all individuals: 1702
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GenotypeQuality
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GenotypeQuality
all individuals: 221
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 296
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variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.563477173233271e-5
allele num: 63960
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.315523556902867e-5
allele num: 15834
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.021e1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.53e-1

FS
type: SiteQuality
SIO_000300: 5.953e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.662e0

DP
type: SiteQuality
SIO_000300: 1.60246e6

VQSLOD
type: SiteQuality
SIO_000300: 2.01e-1

GenotypeQuality
all individuals: 1702
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
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GenotypeQuality
all individuals: 1872
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GenotypeQuality
all individuals: 98
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GenotypeQuality
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GenotypeQuality
all individuals: 8018
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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: 24
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GenotypeQuality
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GenotypeQuality
all individuals: 172
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GenotypeQuality
all individuals: 205
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GenotypeQuality
all individuals: 143
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GenotypeQuality
all individuals: 1857
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GenotypeQuality
all individuals: 137
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9720
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.562158277876714e-5
allele num: 64014
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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VQSLOD
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MQ
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QD
type: SiteQuality
SIO_000300: 1.164e1

MQRankSum
type: SiteQuality
SIO_000300: -1.72e-1

DP
type: SiteQuality
SIO_000300: 1.604164e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.120000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.533e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.560841605793844e-5
allele num: 64068
num of homozygotes: 0

South Asian
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allele num: 15972
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.697164724299878e-5
allele num: 11498
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African
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allele frequency: 0.0e0
allele num: 9734
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.314e0

BaseQRankSum
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QD
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SIO_000300: 1.186e1

InbreedingCoeff
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SIO_000300: -1.4e-3

VQSLOD
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SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

MQRankSum
type: SiteQuality
SIO_000300: 4.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.85e-1

DP
type: SiteQuality
SIO_000300: 1.605895e6

ReadPosRankSum
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SIO_000300: 3.9e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.680917459822125e-5
allele num: 64090
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9698
num of homozygotes: 0

South Asian
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allele frequency: 6.199628022318661e-5
allele num: 16130
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 4.43e-1

MQ
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SIO_000300: 5.957e1

InbreedingCoeff
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SIO_000300: -1.1e-3

FS
type: SiteQuality
SIO_000300: 2.302e0

ClippingRankSum
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SIO_000300: -6.72e-1

BaseQRankSum
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SIO_000300: 2.06e0

QD
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SIO_000300: 3.105e1

DP
type: SiteQuality
SIO_000300: 1.610119e6

VQSLOD
type: SiteQuality
SIO_000300: -2.373e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.676247778782305e-5
allele num: 64154
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16174
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.524390243902439e-4
allele num: 6560
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

VQSLOD
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SIO_000300: -2.007e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

DP
type: SiteQuality
SIO_000300: 1.610353e6

FS
type: SiteQuality
SIO_000300: 1.2854e1

QD
type: SiteQuality
SIO_000300: 9.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.112e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.99e-1

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16194
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64234
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.608242044861763e-4
allele num: 11502
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.610573e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.81e-1

GenotypeQuality
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variant carriers: 1

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64490
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9834
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.154603643525357e-5
allele num: 16248
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.43e-1

BaseQRankSum
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FS
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SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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QD
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DP
type: SiteQuality
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ClippingRankSum
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SIO_000300: -2.32e-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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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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allele frequency: 2.460629921259842e-4
allele num: 16256
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Latino
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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DP
type: SiteQuality
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ClippingRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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FS
type: SiteQuality
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GenotypeQuality
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variant carriers: 51

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 0
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num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.739130434782609e-4
allele num: 11500
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.181615874389565e-5
allele num: 64708
num of homozygotes: 0

East Asian
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Other
type: Population
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African
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allele count: 44
allele frequency: 4.441752473248536e-3
allele num: 9906
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MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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QD
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.615148e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 44867
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8025
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1562
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 874
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16324
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.131221719457014e-3
allele num: 884
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9958
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64846
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-1

QD
type: SiteQuality
SIO_000300: 1.889e1

VQSLOD
type: SiteQuality
SIO_000300: -2.226e0

FS
type: SiteQuality
SIO_000300: 3.276e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.375e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.614765e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

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

GenotypeQuality
all individuals: 85
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44873
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1842
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8022
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1673
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1538
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9980
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16346
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64886
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.698677800974252e-5
allele num: 11496
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.373e1

MQRankSum
type: SiteQuality
SIO_000300: -1.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.345e0

VQSLOD
type: SiteQuality
SIO_000300: -6.2e-3

DP
type: SiteQuality
SIO_000300: 1.615066e6

FS
type: SiteQuality
SIO_000300: 2.632e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-1

MQ
type: SiteQuality
SIO_000300: 5.903e1

GenotypeQuality
all individuals: 205
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1545
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1670
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8011
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1839
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16354
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.167406023815083e-4
allele num: 8566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9970
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

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
allele num: 11492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64940
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.554e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.615024e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e0

QD
type: SiteQuality
SIO_000300: 2.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.809e0

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

GenotypeQuality
all individuals: 52
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44835
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1659
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1834
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 660
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1594
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7999
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 869
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64952
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.113216774666829e-5
allele num: 16358
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9978
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.340000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.244e0

DP
type: SiteQuality
SIO_000300: 1.613884e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: 2.68e0

QD
type: SiteQuality
SIO_000300: 1.151e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 866
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1739
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 9.25e1
variant carriers: 0