2-179393409-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393409
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393409
    reference: chr 2
allele count: 1
allele frequency: 8.668966832532898e-6
allele num: 115354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587944
  gene symbol: TTN-AS1
  hgvsc: ENST00000587944.1:n.72T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.107069A>G
  hgvsp: ENSP00000467141.1:p.Tyr35690Cys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+5046T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+5046T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589434
  gene symbol: TTN-AS1
  hgvsc: ENST00000589434.1:n.422+5046T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.345+5046T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79874A>G
  hgvsp: ENSP00000434586.1:p.Tyr26625Cys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586707
  gene symbol: TTN-AS1
  hgvsc: ENST00000586707.1:n.345+5046T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591332
  gene symbol: TTN-AS1
  hgvsc: ENST00000591332.1:n.345+5046T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.219+5046T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.491+199T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.471-42T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.80249A>G
  hgvsp: ENSP00000352154.5:p.Tyr26750Cys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80450A>G
  hgvsp: ENSP00000340554.6:p.Tyr26817Cys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99365A>G
  hgvsp: ENSP00000343764.6:p.Tyr33122Cys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.345+5046T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587568
  gene symbol: TTN-AS1
  hgvsc: ENST00000587568.1:n.343-2632T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.102146A>G
  hgvsp: ENSP00000465570.1:p.Tyr34049Cys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000456053
  gene symbol: TTN-AS1
  hgvsc: ENST00000456053.1:n.413+5046T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.471-2632T>C
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Tyr35690Cys
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-179393420-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393420
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393420
    reference: chr 2
allele count: 1
allele frequency: 8.632745731107236e-6
allele num: 115838
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99354C>T
  hgvsp: ENST00000342992.6:c.99354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000456053
  gene symbol: TTN-AS1
  hgvsc: ENST00000456053.1:n.413+5057G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79863C>T
  hgvsp: ENST00000460472.2:c.79863C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.107058C>T
  hgvsp: ENST00000589042.1:c.107058C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+5057G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.219+5057G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+5057G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.471-31G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.102135C>T
  hgvsp: ENST00000591111.1:c.102135C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80439C>T
  hgvsp: ENST00000342175.6:c.80439C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000604571
  gene symbol: TTN-AS1
  hgvsc: ENST00000604571.1:n.321-2621G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.491+210G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587568
  gene symbol: TTN-AS1
  hgvsc: ENST00000587568.1:n.343-2621G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+5057G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.80238C>T
  hgvsp: ENST00000359218.5:c.80238C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587944
  gene symbol: TTN-AS1
  hgvsc: ENST00000587944.1:n.83G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.345+5057G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.471-2621G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.345+5057G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591332
  gene symbol: TTN-AS1
  hgvsc: ENST00000591332.1:n.345+5057G>A
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val35686Val
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

2-179393422-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393422
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393422
    reference: chr 2
allele count: 4
allele frequency: 3.454649094018275e-5
allele num: 115786
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99352G>A
  hgvsp: ENSP00000343764.6:p.Val33118Ile
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000604571
  gene symbol: TTN-AS1
  hgvsc: ENST00000604571.1:n.321-2619C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.471-29C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587944
  gene symbol: TTN-AS1
  hgvsc: ENST00000587944.1:n.85C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000456053
  gene symbol: TTN-AS1
  hgvsc: ENST00000456053.1:n.413+5059C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.102133G>A
  hgvsp: ENSP00000465570.1:p.Val34045Ile
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585487
  gene symbol: TTN-AS1
  hgvsc: ENST00000585487.1:n.345+5059C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587568
  gene symbol: TTN-AS1
  hgvsc: ENST00000587568.1:n.343-2619C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79861G>A
  hgvsp: ENSP00000434586.1:p.Val26621Ile
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.491+212C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.346-29C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.107056G>A
  hgvsp: ENSP00000467141.1:p.Val35686Ile
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.345+5059C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.471-2619C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589434
  gene symbol: TTN-AS1
  hgvsc: ENST00000589434.1:n.422+5059C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80437G>A
  hgvsp: ENSP00000340554.6:p.Val26813Ile
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+5059C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591332
  gene symbol: TTN-AS1
  hgvsc: ENST00000591332.1:n.345+5059C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586707
  gene symbol: TTN-AS1
  hgvsc: ENST00000586707.1:n.345+5059C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585625
  gene symbol: TTN-AS1
  hgvsc: ENST00000585625.1:n.681-2619C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.219+5059C>T
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val35686Ile
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

2-179393428-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393428
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393428
    reference: chr 2
allele count: 3
allele frequency: 2.578914792655251e-5
allele num: 116328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.102127G>A
  hgvsp: ENSP00000465570.1:p.Gly34043Arg
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.471-23C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.345+5065C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591332
  gene symbol: TTN-AS1
  hgvsc: ENST00000591332.1:n.345+5065C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.80230G>A
  hgvsp: ENSP00000352154.5:p.Gly26744Arg
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.107050G>A
  hgvsp: ENSP00000467141.1:p.Gly35684Arg
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+5065C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80431G>A
  hgvsp: ENSP00000340554.6:p.Gly26811Arg
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587568
  gene symbol: TTN-AS1
  hgvsc: ENST00000587568.1:n.343-2613C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587944
  gene symbol: TTN-AS1
  hgvsc: ENST00000587944.1:n.91C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585625
  gene symbol: TTN-AS1
  hgvsc: ENST00000585625.1:n.681-2613C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585487
  gene symbol: TTN-AS1
  hgvsc: ENST00000585487.1:n.345+5065C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.345+5065C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79855G>A
  hgvsp: ENSP00000434586.1:p.Gly26619Arg
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.346-23C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589434
  gene symbol: TTN-AS1
  hgvsc: ENST00000589434.1:n.422+5065C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000604571
  gene symbol: TTN-AS1
  hgvsc: ENST00000604571.1:n.321-2613C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99346G>A
  hgvsp: ENSP00000343764.6:p.Gly33116Arg
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+5065C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.219+5065C>T
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly35684Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

2-179393451-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393451
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393451
    reference: chr 2
allele count: 2
allele frequency: 1.704361460978644e-5
allele num: 117346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.80207C>T
  hgvsp: ENSP00000352154.5:p.Thr26736Ile
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585625
  gene symbol: TTN-AS1
  hgvsc: ENST00000585625.1:n.681-2590G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.471G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.107027C>T
  hgvsp: ENSP00000467141.1:p.Thr35676Ile
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+5088G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79832C>T
  hgvsp: ENSP00000434586.1:p.Thr26611Ile
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.219+5088G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.345+5088G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80408C>T
  hgvsp: ENSP00000340554.6:p.Thr26803Ile
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.346G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587944
  gene symbol: TTN-AS1
  hgvsc: ENST00000587944.1:n.114G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000456053
  gene symbol: TTN-AS1
  hgvsc: ENST00000456053.1:n.413+5088G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.471-2590G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.491+241G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.102104C>T
  hgvsp: ENSP00000465570.1:p.Thr34035Ile
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99323C>T
  hgvsp: ENSP00000343764.6:p.Thr33108Ile
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585487
  gene symbol: TTN-AS1
  hgvsc: ENST00000585487.1:n.345+5088G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587568
  gene symbol: TTN-AS1
  hgvsc: ENST00000587568.1:n.343-2590G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000604571
  gene symbol: TTN-AS1
  hgvsc: ENST00000604571.1:n.321-2590G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586707
  gene symbol: TTN-AS1
  hgvsc: ENST00000586707.1:n.345+5088G>A
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr35676Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-179393462-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393462
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393462
    reference: chr 2
allele count: 1
allele frequency: 8.493578854386084e-6
allele num: 117736
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+5099T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.491+252T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587944
  gene symbol: TTN-AS1
  hgvsc: ENST00000587944.1:n.125T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587568
  gene symbol: TTN-AS1
  hgvsc: ENST00000587568.1:n.343-2579T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.482T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79821A>C
  hgvsp: ENSP00000434586.1:p.Glu26607Asp
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.102093A>C
  hgvsp: ENSP00000465570.1:p.Glu34031Asp
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586707
  gene symbol: TTN-AS1
  hgvsc: ENST00000586707.1:n.345+5099T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000604571
  gene symbol: TTN-AS1
  hgvsc: ENST00000604571.1:n.321-2579T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589434
  gene symbol: TTN-AS1
  hgvsc: ENST00000589434.1:n.422+5099T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.471-2579T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.107016A>C
  hgvsp: ENSP00000467141.1:p.Glu35672Asp
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.219+5099T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99312A>C
  hgvsp: ENSP00000343764.6:p.Glu33104Asp
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+5099T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585625
  gene symbol: TTN-AS1
  hgvsc: ENST00000585625.1:n.681-2579T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585487
  gene symbol: TTN-AS1
  hgvsc: ENST00000585487.1:n.345+5099T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.357T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.345+5099T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.80196A>C
  hgvsp: ENSP00000352154.5:p.Glu26732Asp
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+5099T>G
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu35672Asp
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

2-179393469-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393469
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393469
    reference: chr 2
allele count: 5
allele frequency: 4.238796859899286e-5
allele num: 117958
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.3C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80390G>C
  hgvsp: ENSP00000340554.6:p.Arg26797Thr
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589434
  gene symbol: TTN-AS1
  hgvsc: ENST00000589434.1:n.422+5106C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+5106C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588716
  gene symbol: TTN-AS1
  hgvsc: ENST00000588716.1:n.3C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.3C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.3C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587944
  gene symbol: TTN-AS1
  hgvsc: ENST00000587944.1:n.132C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.3C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589391
  gene symbol: TTN-AS1
  hgvsc: ENST00000589391.1:n.3C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.345+5106C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.107009G>C
  hgvsp: ENSP00000467141.1:p.Arg35670Thr
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.3C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585625
  gene symbol: TTN-AS1
  hgvsc: ENST00000585625.1:n.681-2572C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.102086G>C
  hgvsp: ENSP00000465570.1:p.Arg34029Thr
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.3C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591332
  gene symbol: TTN-AS1
  hgvsc: ENST00000591332.1:n.345+5106C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.3C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.3C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.471-2572C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+5106C>G
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg35670Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-179393476-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393476
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393476
    reference: chr 2
allele count: 2
allele frequency: 1.694771629522922e-5
allele num: 118010
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000456053
  gene symbol: TTN-AS1
  hgvsc: ENST00000456053.1:n.413+5113T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.471-2565T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.80182A>C
  hgvsp: ENSP00000352154.5:p.Ser26728Arg
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79807A>C
  hgvsp: ENSP00000434586.1:p.Ser26603Arg
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.102079A>C
  hgvsp: ENSP00000465570.1:p.Ser34027Arg
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.10T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.10T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.491+266T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587568
  gene symbol: TTN-AS1
  hgvsc: ENST00000587568.1:n.343-2565T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000604571
  gene symbol: TTN-AS1
  hgvsc: ENST00000604571.1:n.321-2565T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.10T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80383A>C
  hgvsp: ENSP00000340554.6:p.Ser26795Arg
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.10T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586707
  gene symbol: TTN-AS1
  hgvsc: ENST00000586707.1:n.345+5113T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.371T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.10T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.10T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.10T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589434
  gene symbol: TTN-AS1
  hgvsc: ENST00000589434.1:n.422+5113T>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.107002A>C
  hgvsp: ENSP00000467141.1:p.Ser35668Arg
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99298A>C
  hgvsp: ENSP00000343764.6:p.Ser33100Arg
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser35668Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

2-179393482-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393482
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393482
    reference: chr 2
allele count: 2
allele frequency: 1.74361835681406e-5
allele num: 114704
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585487
  gene symbol: TTN-AS1
  hgvsc: ENST00000585487.1:n.345+5119G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.16G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.16G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.106996C>G
  hgvsp: ENSP00000467141.1:p.Gln35666Glu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79801C>G
  hgvsp: ENSP00000434586.1:p.Gln26601Glu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.16G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.16G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.16G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585625
  gene symbol: TTN-AS1
  hgvsc: ENST00000585625.1:n.681-2559G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.16G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80377C>G
  hgvsp: ENSP00000340554.6:p.Gln26793Glu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.16G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.16G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.377G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586707
  gene symbol: TTN-AS1
  hgvsc: ENST00000586707.1:n.345+5119G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.16G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.16G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.502G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99292C>G
  hgvsp: ENSP00000343764.6:p.Gln33098Glu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.219+5119G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587568
  gene symbol: TTN-AS1
  hgvsc: ENST00000587568.1:n.343-2559G>C
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln35666Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

2-179393482-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393482
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393482
    reference: chr 2
allele count: 48
allele frequency: 4.184684056353745e-4
allele num: 114704
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.106996C>A
  hgvsp: ENSP00000467141.1:p.Gln35666Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586831
  gene symbol: TTN-AS1
  hgvsc: ENST00000586831.1:n.16G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.80176C>A
  hgvsp: ENSP00000352154.5:p.Gln26726Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.219+5119G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587944
  gene symbol: TTN-AS1
  hgvsc: ENST00000587944.1:n.145G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99292C>A
  hgvsp: ENSP00000343764.6:p.Gln33098Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.16G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79801C>A
  hgvsp: ENSP00000434586.1:p.Gln26601Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.16G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585487
  gene symbol: TTN-AS1
  hgvsc: ENST00000585487.1:n.345+5119G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000604571
  gene symbol: TTN-AS1
  hgvsc: ENST00000604571.1:n.321-2559G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.16G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.16G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.16G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.377G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587568
  gene symbol: TTN-AS1
  hgvsc: ENST00000587568.1:n.343-2559G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.16G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.502G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80377C>A
  hgvsp: ENSP00000340554.6:p.Gln26793Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586707
  gene symbol: TTN-AS1
  hgvsc: ENST00000586707.1:n.345+5119G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.16G>T
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln35666Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

2-179393483-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393483
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393483
    reference: chr 2
allele count: 5
allele frequency: 4.239803273128127e-5
allele num: 117930
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.17C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.503C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.17C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.102072G>A
  hgvsp: ENST00000591111.1:c.102072G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+5120C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.17C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.80175G>A
  hgvsp: ENST00000359218.5:c.80175G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.17C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99291G>A
  hgvsp: ENST00000342992.6:c.99291G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000604571
  gene symbol: TTN-AS1
  hgvsc: ENST00000604571.1:n.321-2558C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.17C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79800G>A
  hgvsp: ENST00000460472.2:c.79800G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587944
  gene symbol: TTN-AS1
  hgvsc: ENST00000587944.1:n.146C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585625
  gene symbol: TTN-AS1
  hgvsc: ENST00000585625.1:n.681-2558C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.378C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.17C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.106995G>A
  hgvsp: ENST00000589042.1:c.106995G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.17C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80376G>A
  hgvsp: ENST00000342175.6:c.80376G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000456053
  gene symbol: TTN-AS1
  hgvsc: ENST00000456053.1:n.413+5120C>T
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys35665Lys
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

2-179393484-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393484
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393484
    reference: chr 2
allele count: 1
allele frequency: 8.460380040271409e-6
allele num: 118198
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586707
  gene symbol: TTN-AS1
  hgvsc: ENST00000586707.1:n.345+5121T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80375A>G
  hgvsp: ENSP00000340554.6:p.Lys26792Arg
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.18T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585625
  gene symbol: TTN-AS1
  hgvsc: ENST00000585625.1:n.681-2557T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.18T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.106994A>G
  hgvsp: ENSP00000467141.1:p.Lys35665Arg
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99290A>G
  hgvsp: ENSP00000343764.6:p.Lys33097Arg
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.345+5121T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.491+274T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.18T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589391
  gene symbol: TTN-AS1
  hgvsc: ENST00000589391.1:n.18T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589434
  gene symbol: TTN-AS1
  hgvsc: ENST00000589434.1:n.422+5121T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.18T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588716
  gene symbol: TTN-AS1
  hgvsc: ENST00000588716.1:n.18T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.471-2557T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.18T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586831
  gene symbol: TTN-AS1
  hgvsc: ENST00000586831.1:n.18T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.504T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.18T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.18T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000456053
  gene symbol: TTN-AS1
  hgvsc: ENST00000456053.1:n.413+5121T>C
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys35665Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

2-179393486-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393486
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393486
    reference: chr 2
allele count: 2
allele frequency: 1.69296404144376e-5
allele num: 118136
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.106992C>A
  hgvsp: ENST00000589042.1:c.106992C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.20G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.20G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.20G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.345+5123G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.219+5123G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.20G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80373C>A
  hgvsp: ENST00000342175.6:c.80373C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.102069C>A
  hgvsp: ENST00000591111.1:c.102069C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.471-2555G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.80172C>A
  hgvsp: ENST00000359218.5:c.80172C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.381G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79797C>A
  hgvsp: ENST00000460472.2:c.79797C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585487
  gene symbol: TTN-AS1
  hgvsc: ENST00000585487.1:n.345+5123G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.20G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99288C>A
  hgvsp: ENST00000342992.6:c.99288C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589434
  gene symbol: TTN-AS1
  hgvsc: ENST00000589434.1:n.422+5123G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.20G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585625
  gene symbol: TTN-AS1
  hgvsc: ENST00000585625.1:n.681-2555G>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.20G>T
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile35664Ile
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

2-179393488-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393488
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393488
    reference: chr 2
allele count: 1
allele frequency: 8.454371755634839e-6
allele num: 118282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.102067A>T
  hgvsp: ENSP00000465570.1:p.Ile34023Phe
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589434
  gene symbol: TTN-AS1
  hgvsc: ENST00000589434.1:n.422+5125T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.80170A>T
  hgvsp: ENSP00000352154.5:p.Ile26724Phe
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80371A>T
  hgvsp: ENSP00000340554.6:p.Ile26791Phe
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.106990A>T
  hgvsp: ENSP00000467141.1:p.Ile35664Phe
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.22T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.22T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.22T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.491+278T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588716
  gene symbol: TTN-AS1
  hgvsc: ENST00000588716.1:n.22T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79795A>T
  hgvsp: ENSP00000434586.1:p.Ile26599Phe
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.508T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.22T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99286A>T
  hgvsp: ENSP00000343764.6:p.Ile33096Phe
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+5125T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586831
  gene symbol: TTN-AS1
  hgvsc: ENST00000586831.1:n.22T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585625
  gene symbol: TTN-AS1
  hgvsc: ENST00000585625.1:n.681-2553T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.22T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.22T>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.383T>A
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile35664Phe
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

2-179393496-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393496
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393496
    reference: chr 2
allele count: 1
allele frequency: 8.445232666159953e-6
allele num: 118410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.30G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.491+286G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585625
  gene symbol: TTN-AS1
  hgvsc: ENST00000585625.1:n.681-2545G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.391G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586831
  gene symbol: TTN-AS1
  hgvsc: ENST00000586831.1:n.30G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.102059C>T
  hgvsp: ENSP00000465570.1:p.Thr34020Ile
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.471-2545G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80363C>T
  hgvsp: ENSP00000340554.6:p.Thr26788Ile
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585487
  gene symbol: TTN-AS1
  hgvsc: ENST00000585487.1:n.345+5133G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99278C>T
  hgvsp: ENSP00000343764.6:p.Thr33093Ile
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.80162C>T
  hgvsp: ENSP00000352154.5:p.Thr26721Ile
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.30G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591332
  gene symbol: TTN-AS1
  hgvsc: ENST00000591332.1:n.345+5133G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586707
  gene symbol: TTN-AS1
  hgvsc: ENST00000586707.1:n.345+5133G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79787C>T
  hgvsp: ENSP00000434586.1:p.Thr26596Ile
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.30G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588716
  gene symbol: TTN-AS1
  hgvsc: ENST00000588716.1:n.30G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.30G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.30G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.106982C>T
  hgvsp: ENSP00000467141.1:p.Thr35661Ile
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr35661Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

2-179393504-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393504
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393504
    reference: chr 2
allele count: 9
allele frequency: 7.591477301482868e-5
allele num: 118554
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.38G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.38G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.106974C>T
  hgvsp: ENST00000589042.1:c.106974C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.38G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.399G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.80154C>T
  hgvsp: ENST00000359218.5:c.80154C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.491+294G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99270C>T
  hgvsp: ENST00000342992.6:c.99270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586831
  gene symbol: TTN-AS1
  hgvsc: ENST00000586831.1:n.38G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.38G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80355C>T
  hgvsp: ENST00000342175.6:c.80355C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.38G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586707
  gene symbol: TTN-AS1
  hgvsc: ENST00000586707.1:n.345+5141G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+5141G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.38G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79779C>T
  hgvsp: ENST00000460472.2:c.79779C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.38G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.471-2537G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589434
  gene symbol: TTN-AS1
  hgvsc: ENST00000589434.1:n.422+5141G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+5141G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+5141G>A
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser35658Ser
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-179393505-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393505
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393505
    reference: chr 2
allele count: 2
allele frequency: 1.685487948761166e-5
allele num: 118660
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586707
  gene symbol: TTN-AS1
  hgvsc: ENST00000586707.1:n.345+5142C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.39C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.39C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+5142C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.102050G>A
  hgvsp: ENSP00000465570.1:p.Ser34017Asn
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79778G>A
  hgvsp: ENSP00000434586.1:p.Ser26593Asn
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99269G>A
  hgvsp: ENSP00000343764.6:p.Ser33090Asn
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.39C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585625
  gene symbol: TTN-AS1
  hgvsc: ENST00000585625.1:n.681-2536C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.39C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80354G>A
  hgvsp: ENSP00000340554.6:p.Ser26785Asn
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.39C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+5142C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.39C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589391
  gene symbol: TTN-AS1
  hgvsc: ENST00000589391.1:n.39C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.39C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.39C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.106973G>A
  hgvsp: ENSP00000467141.1:p.Ser35658Asn
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.525C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588716
  gene symbol: TTN-AS1
  hgvsc: ENST00000588716.1:n.39C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.39C>T
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser35658Asn
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

2-179393519-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393519
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393519
    reference: chr 2
allele count: 1
allele frequency: 8.391232839928842e-6
allele num: 119172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.414A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.53A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585625
  gene symbol: TTN-AS1
  hgvsc: ENST00000585625.1:n.681-2522A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589391
  gene symbol: TTN-AS1
  hgvsc: ENST00000589391.1:n.53A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.80139T>A
  hgvsp: ENSP00000352154.5:p.Tyr26713Ter
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.219+5156A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588716
  gene symbol: TTN-AS1
  hgvsc: ENST00000588716.1:n.53A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587944
  gene symbol: TTN-AS1
  hgvsc: ENST00000587944.1:n.182A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.53A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587568
  gene symbol: TTN-AS1
  hgvsc: ENST00000587568.1:n.343-2522A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.53A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.53A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99255T>A
  hgvsp: ENSP00000343764.6:p.Tyr33085Ter
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.53A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.53A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.345+5156A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.102036T>A
  hgvsp: ENSP00000465570.1:p.Tyr34012Ter
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80340T>A
  hgvsp: ENSP00000340554.6:p.Tyr26780Ter
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79764T>A
  hgvsp: ENSP00000434586.1:p.Tyr26588Ter
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.53A>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586831
  gene symbol: TTN-AS1
  hgvsc: ENST00000586831.1:n.53A>T
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Tyr35653Ter
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

2-179393523-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393523
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393523
    reference: chr 2
allele count: 21
allele frequency: 1.76266178717118e-4
allele num: 119138
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.57C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.57C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.106955G>A
  hgvsp: ENSP00000467141.1:p.Arg35652Gln
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79760G>A
  hgvsp: ENSP00000434586.1:p.Arg26587Gln
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.345+5160C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.57C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+5160C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99251G>A
  hgvsp: ENSP00000343764.6:p.Arg33084Gln
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.102032G>A
  hgvsp: ENSP00000465570.1:p.Arg34011Gln
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.57C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.471-2518C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.57C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587944
  gene symbol: TTN-AS1
  hgvsc: ENST00000587944.1:n.186C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586707
  gene symbol: TTN-AS1
  hgvsc: ENST00000586707.1:n.345+5160C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80336G>A
  hgvsp: ENSP00000340554.6:p.Arg26779Gln
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.57C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586831
  gene symbol: TTN-AS1
  hgvsc: ENST00000586831.1:n.57C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.57C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587568
  gene symbol: TTN-AS1
  hgvsc: ENST00000587568.1:n.343-2518C>T
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg35652Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

2-179393524-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393524
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393524
    reference: chr 2
allele count: 2
allele frequency: 1.67768345468577e-5
allele num: 119212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.58G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.58G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.106954C>T
  hgvsp: ENSP00000467141.1:p.Arg35652Ter
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.58G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.491+314G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+5161G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.58G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80335C>T
  hgvsp: ENSP00000340554.6:p.Arg26779Ter
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79759C>T
  hgvsp: ENSP00000434586.1:p.Arg26587Ter
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591332
  gene symbol: TTN-AS1
  hgvsc: ENST00000591332.1:n.345+5161G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+5161G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99250C>T
  hgvsp: ENSP00000343764.6:p.Arg33084Ter
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.58G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.58G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.102031C>T
  hgvsp: ENSP00000465570.1:p.Arg34011Ter
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.419G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589434
  gene symbol: TTN-AS1
  hgvsc: ENST00000589434.1:n.422+5161G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+5161G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587568
  gene symbol: TTN-AS1
  hgvsc: ENST00000587568.1:n.343-2517G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.80134C>T
  hgvsp: ENSP00000352154.5:p.Arg26712Ter
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg35652Ter
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS

2-179393525-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393525
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393525
    reference: chr 2
allele count: 1
allele frequency: 8.381386616601851e-6
allele num: 119312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80334C>T
  hgvsp: ENST00000342175.6:c.80334C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.59G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.59G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99249C>T
  hgvsp: ENST00000342992.6:c.99249C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.59G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.106953C>T
  hgvsp: ENST00000589042.1:c.106953C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.59G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591332
  gene symbol: TTN-AS1
  hgvsc: ENST00000591332.1:n.345+5162G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.102030C>T
  hgvsp: ENST00000591111.1:c.102030C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.59G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586707
  gene symbol: TTN-AS1
  hgvsc: ENST00000586707.1:n.345+5162G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588716
  gene symbol: TTN-AS1
  hgvsc: ENST00000588716.1:n.59G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587944
  gene symbol: TTN-AS1
  hgvsc: ENST00000587944.1:n.188G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+5162G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+5162G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79758C>T
  hgvsp: ENST00000460472.2:c.79758C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.59G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.545G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.420G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.59G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.59G>A
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Tyr35651Tyr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP

2-179393531-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393531
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393531
    reference: chr 2
allele count: 1
allele frequency: 8.367920739054759e-6
allele num: 119504
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589434
  gene symbol: TTN-AS1
  hgvsc: ENST00000589434.1:n.422+5168C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588716
  gene symbol: TTN-AS1
  hgvsc: ENST00000588716.1:n.65C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.102024G>C
  hgvsp: ENSP00000465570.1:p.Glu34008Asp
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.65C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.80127G>C
  hgvsp: ENSP00000352154.5:p.Glu26709Asp
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79752G>C
  hgvsp: ENSP00000434586.1:p.Glu26584Asp
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586707
  gene symbol: TTN-AS1
  hgvsc: ENST00000586707.1:n.345+5168C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.345+5168C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99243G>C
  hgvsp: ENSP00000343764.6:p.Glu33081Asp
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587944
  gene symbol: TTN-AS1
  hgvsc: ENST00000587944.1:n.194C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.65C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.65C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.551C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.106947G>C
  hgvsp: ENSP00000467141.1:p.Glu35649Asp
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.491+321C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80328G>C
  hgvsp: ENSP00000340554.6:p.Glu26776Asp
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.65C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.65C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585625
  gene symbol: TTN-AS1
  hgvsc: ENST00000585625.1:n.681-2510C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.426C>G
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu35649Asp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-179393551-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393551
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393551
    reference: chr 2
allele count: 6
allele frequency: 5.00600720865038e-5
allele num: 119856
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591332
  gene symbol: TTN-AS1
  hgvsc: ENST00000591332.1:n.345+5188C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.560+11C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000456053
  gene symbol: TTN-AS1
  hgvsc: ENST00000456053.1:n.413+5188C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.435+11C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.106927G>A
  hgvsp: ENSP00000467141.1:p.Val35643Ile
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.74+11C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587944
  gene symbol: TTN-AS1
  hgvsc: ENST00000587944.1:n.214C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.74+11C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.74+11C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.102004G>A
  hgvsp: ENSP00000465570.1:p.Val34002Ile
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+5188C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.74+11C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+5188C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585625
  gene symbol: TTN-AS1
  hgvsc: ENST00000585625.1:n.681-2490C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+11C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79732G>A
  hgvsp: ENSP00000434586.1:p.Val26578Ile
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99223G>A
  hgvsp: ENSP00000343764.6:p.Val33075Ile
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.74+11C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587568
  gene symbol: TTN-AS1
  hgvsc: ENST00000587568.1:n.343-2490C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.74+11C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.74+11C>T
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val35643Ile
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ

2-179393552-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393552
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393552
    reference: chr 2
allele count: 11
allele frequency: 9.173393822136233e-5
allele num: 119912
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.102003C>T
  hgvsp: ENST00000591111.1:c.102003C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.74+12G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+12G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.74+12G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587568
  gene symbol: TTN-AS1
  hgvsc: ENST00000587568.1:n.343-2489G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.345+5189G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.106926C>T
  hgvsp: ENST00000589042.1:c.106926C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585625
  gene symbol: TTN-AS1
  hgvsc: ENST00000585625.1:n.681-2489G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+5189G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+5189G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.74+12G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+5189G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.74+12G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99222C>T
  hgvsp: ENST00000342992.6:c.99222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.80106C>T
  hgvsp: ENST00000359218.5:c.80106C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.560+12G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.74+12G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79731C>T
  hgvsp: ENST00000460472.2:c.79731C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.74+12G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80307C>T
  hgvsp: ENST00000342175.6:c.80307C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly35642Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

2-179393558-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393558
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393558
    reference: chr 2
allele count: 71
allele frequency: 5.913709811760787e-4
allele num: 120060
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.345+5195C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.560+18C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587944
  gene symbol: TTN-AS1
  hgvsc: ENST00000587944.1:n.221C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80301G>A
  hgvsp: ENST00000342175.6:c.80301G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.74+18C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+5195C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.74+18C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.74+18C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.74+18C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+18C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.74+18C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585487
  gene symbol: TTN-AS1
  hgvsc: ENST00000585487.1:n.345+5195C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.74+18C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.491+348C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587568
  gene symbol: TTN-AS1
  hgvsc: ENST00000587568.1:n.343-2483C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.74+18C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79725G>A
  hgvsp: ENST00000460472.2:c.79725G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.74+18C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.101997G>A
  hgvsp: ENST00000591111.1:c.101997G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu35640Leu
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/2-179393559-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393559
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393559
    reference: chr 2
allele count: 2
allele frequency: 1.66536213299582e-5
allele num: 120094
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79724T>G
  hgvsp: ENSP00000434586.1:p.Leu26575Arg
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80300T>G
  hgvsp: ENSP00000340554.6:p.Leu26767Arg
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.101996T>G
  hgvsp: ENSP00000465570.1:p.Leu33999Arg
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585625
  gene symbol: TTN-AS1
  hgvsc: ENST00000585625.1:n.681-2482A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99215T>G
  hgvsp: ENSP00000343764.6:p.Leu33072Arg
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.80099T>G
  hgvsp: ENSP00000352154.5:p.Leu26700Arg
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.471-2482A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.74+19A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.74+19A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.74+19A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+5196A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.74+19A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586831
  gene symbol: TTN-AS1
  hgvsc: ENST00000586831.1:n.74+19A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.74+19A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587944
  gene symbol: TTN-AS1
  hgvsc: ENST00000587944.1:n.222A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+5196A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.560+19A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+19A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.74+19A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589391
  gene symbol: TTN-AS1
  hgvsc: ENST00000589391.1:n.74+19A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588716
  gene symbol: TTN-AS1
  hgvsc: ENST00000588716.1:n.74+19A>C
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu35640Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

2-179393564-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393564
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393564
    reference: chr 2
allele count: 1
allele frequency: 8.321129010784183e-6
allele num: 120176
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588716
  gene symbol: TTN-AS1
  hgvsc: ENST00000588716.1:n.74+24C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79719G>C
  hgvsp: ENSP00000434586.1:p.Trp26573Cys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.74+24C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+5201C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+5201C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.219+5201C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.80094G>C
  hgvsp: ENSP00000352154.5:p.Trp26698Cys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585625
  gene symbol: TTN-AS1
  hgvsc: ENST00000585625.1:n.681-2477C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80295G>C
  hgvsp: ENSP00000340554.6:p.Trp26765Cys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99210G>C
  hgvsp: ENSP00000343764.6:p.Trp33070Cys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.74+24C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+5201C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000456053
  gene symbol: TTN-AS1
  hgvsc: ENST00000456053.1:n.413+5201C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587568
  gene symbol: TTN-AS1
  hgvsc: ENST00000587568.1:n.343-2477C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.74+24C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.74+24C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.560+24C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.106914G>C
  hgvsp: ENSP00000467141.1:p.Trp35638Cys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+24C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.435+24C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586707
  gene symbol: TTN-AS1
  hgvsc: ENST00000586707.1:n.345+5201C>G
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Trp35638Cys
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

2-179393567-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393567
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393567
    reference: chr 2
allele count: 27
allele frequency: 2.245621038974001e-4
allele num: 120234
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99207A>G
  hgvsp: ENST00000342992.6:c.99207A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+5204T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000456053
  gene symbol: TTN-AS1
  hgvsc: ENST00000456053.1:n.413+5204T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585625
  gene symbol: TTN-AS1
  hgvsc: ENST00000585625.1:n.681-2474T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.471-2474T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.74+27T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+5204T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586831
  gene symbol: TTN-AS1
  hgvsc: ENST00000586831.1:n.74+27T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.345+5204T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79716A>G
  hgvsp: ENST00000460472.2:c.79716A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000604571
  gene symbol: TTN-AS1
  hgvsc: ENST00000604571.1:n.321-2474T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.74+27T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.106911A>G
  hgvsp: ENST00000589042.1:c.106911A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+27T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589391
  gene symbol: TTN-AS1
  hgvsc: ENST00000589391.1:n.74+27T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.80091A>G
  hgvsp: ENST00000359218.5:c.80091A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.74+27T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.74+27T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.101988A>G
  hgvsp: ENST00000591111.1:c.101988A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587944
  gene symbol: TTN-AS1
  hgvsc: ENST00000587944.1:n.230T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.74+27T>C
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys35637Lys
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-179393572-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393572
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393572
    reference: chr 2
allele count: 1
allele frequency: 8.314487162431821e-6
allele num: 120272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.74+32C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+5209C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.491+362C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.471-2469C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.74+32C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80287G>A
  hgvsp: ENSP00000340554.6:p.Val26763Met
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585625
  gene symbol: TTN-AS1
  hgvsc: ENST00000585625.1:n.681-2469C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99202G>A
  hgvsp: ENSP00000343764.6:p.Val33068Met
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.74+32C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+5209C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.101983G>A
  hgvsp: ENSP00000465570.1:p.Val33995Met
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.106906G>A
  hgvsp: ENSP00000467141.1:p.Val35636Met
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.74+32C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79711G>A
  hgvsp: ENSP00000434586.1:p.Val26571Met
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.80086G>A
  hgvsp: ENSP00000352154.5:p.Val26696Met
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.74+32C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585487
  gene symbol: TTN-AS1
  hgvsc: ENST00000585487.1:n.345+5209C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+32C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.435+32C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.74+32C>T
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val35636Met
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

2-179393590-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393590
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393590
    reference: chr 2
allele count: 1
allele frequency: 8.303854649328218e-6
allele num: 120426
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.74+50T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.106888A>G
  hgvsp: ENSP00000467141.1:p.Ile35630Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79693A>G
  hgvsp: ENSP00000434586.1:p.Ile26565Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.74+50T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.74+50T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.74+50T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.219+5227T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586707
  gene symbol: TTN-AS1
  hgvsc: ENST00000586707.1:n.345+5227T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585625
  gene symbol: TTN-AS1
  hgvsc: ENST00000585625.1:n.681-2451T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585487
  gene symbol: TTN-AS1
  hgvsc: ENST00000585487.1:n.345+5227T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588716
  gene symbol: TTN-AS1
  hgvsc: ENST00000588716.1:n.74+50T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.74+50T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.101965A>G
  hgvsp: ENSP00000465570.1:p.Ile33989Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80269A>G
  hgvsp: ENSP00000340554.6:p.Ile26757Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99184A>G
  hgvsp: ENSP00000343764.6:p.Ile33062Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587568
  gene symbol: TTN-AS1
  hgvsc: ENST00000587568.1:n.343-2451T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.80068A>G
  hgvsp: ENSP00000352154.5:p.Ile26690Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.560+50T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000604571
  gene symbol: TTN-AS1
  hgvsc: ENST00000604571.1:n.321-2451T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591332
  gene symbol: TTN-AS1
  hgvsc: ENST00000591332.1:n.345+5227T>C
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile35630Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-179393592-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393592
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393592
    reference: chr 2
allele count: 2
allele frequency: 1.660633033312299e-5
allele num: 120436
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587568
  gene symbol: TTN-AS1
  hgvsc: ENST00000587568.1:n.343-2449T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.80066A>G
  hgvsp: ENSP00000352154.5:p.Asn26689Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.219+5229T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.471-2449T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.74+52T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.491+382T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80267A>G
  hgvsp: ENSP00000340554.6:p.Asn26756Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.101963A>G
  hgvsp: ENSP00000465570.1:p.Asn33988Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.74+52T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585625
  gene symbol: TTN-AS1
  hgvsc: ENST00000585625.1:n.681-2449T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.106886A>G
  hgvsp: ENSP00000467141.1:p.Asn35629Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.74+52T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99182A>G
  hgvsp: ENSP00000343764.6:p.Asn33061Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.74+52T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+5229T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.74+52T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.74+52T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587944
  gene symbol: TTN-AS1
  hgvsc: ENST00000587944.1:n.255T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+5229T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.74+52T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79691A>G
  hgvsp: ENSP00000434586.1:p.Asn26564Ser
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn35629Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

2-179393595-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393595
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393595
    reference: chr 2
allele count: 4
allele frequency: 3.320990319313219e-5
allele num: 120446
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.74+55G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.435+55G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.74+55G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.74+55G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80264C>G
  hgvsp: ENSP00000340554.6:p.Ala26755Gly
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.560+55G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.74+55G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.74+55G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.345+5232G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587568
  gene symbol: TTN-AS1
  hgvsc: ENST00000587568.1:n.343-2446G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.80063C>G
  hgvsp: ENSP00000352154.5:p.Ala26688Gly
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+5232G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585625
  gene symbol: TTN-AS1
  hgvsc: ENST00000585625.1:n.681-2446G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.471-2446G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+55G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585487
  gene symbol: TTN-AS1
  hgvsc: ENST00000585487.1:n.345+5232G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99179C>G
  hgvsp: ENSP00000343764.6:p.Ala33060Gly
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+5232G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.101960C>G
  hgvsp: ENSP00000465570.1:p.Ala33987Gly
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.106883C>G
  hgvsp: ENSP00000467141.1:p.Ala35628Gly
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.74+55G>C
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala35628Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/2-179393602-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393602
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393602
    reference: chr 2
allele count: 7
allele frequency: 5.809128630705394e-5
allele num: 120500
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80257T>G
  hgvsp: ENSP00000340554.6:p.Leu26753Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.74+62A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79681T>G
  hgvsp: ENSP00000434586.1:p.Leu26561Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.345+5239A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.74+62A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+62A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.74+62A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99172T>G
  hgvsp: ENSP00000343764.6:p.Leu33058Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585625
  gene symbol: TTN-AS1
  hgvsc: ENST00000585625.1:n.681-2439A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+5239A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.101953T>G
  hgvsp: ENSP00000465570.1:p.Leu33985Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+5239A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.219+5239A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591332
  gene symbol: TTN-AS1
  hgvsc: ENST00000591332.1:n.345+5239A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587568
  gene symbol: TTN-AS1
  hgvsc: ENST00000587568.1:n.343-2439A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.74+62A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.106876T>G
  hgvsp: ENSP00000467141.1:p.Leu35626Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.74+62A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.435+62A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000604571
  gene symbol: TTN-AS1
  hgvsc: ENST00000604571.1:n.321-2439A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.80056T>G
  hgvsp: ENSP00000352154.5:p.Leu26686Val
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu35626Val
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-179393610-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393610
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393610
    reference: chr 2
allele count: 2
allele frequency: 1.659448067572725e-5
allele num: 120522
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.74+70C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.74+70C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80249G>T
  hgvsp: ENSP00000340554.6:p.Arg26750Ile
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587944
  gene symbol: TTN-AS1
  hgvsc: ENST00000587944.1:n.273C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+5247C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99164G>T
  hgvsp: ENSP00000343764.6:p.Arg33055Ile
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591332
  gene symbol: TTN-AS1
  hgvsc: ENST00000591332.1:n.345+5247C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.80048G>T
  hgvsp: ENSP00000352154.5:p.Arg26683Ile
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.74+70C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+5247C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.101945G>T
  hgvsp: ENSP00000465570.1:p.Arg33982Ile
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.106868G>T
  hgvsp: ENSP00000467141.1:p.Arg35623Ile
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585625
  gene symbol: TTN-AS1
  hgvsc: ENST00000585625.1:n.681-2431C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.74+70C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588716
  gene symbol: TTN-AS1
  hgvsc: ENST00000588716.1:n.74+70C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.560+70C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.345+5247C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000604571
  gene symbol: TTN-AS1
  hgvsc: ENST00000604571.1:n.321-2431C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587568
  gene symbol: TTN-AS1
  hgvsc: ENST00000587568.1:n.343-2431C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585487
  gene symbol: TTN-AS1
  hgvsc: ENST00000585487.1:n.345+5247C>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+5247C>A
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg35623Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

2-179393614-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393614
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393614
    reference: chr 2
allele count: 1
allele frequency: 8.296138976920141e-6
allele num: 120538
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587568
  gene symbol: TTN-AS1
  hgvsc: ENST00000587568.1:n.343-2427G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.74+74G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.80044C>G
  hgvsp: ENSP00000352154.5:p.Gln26682Glu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.74+74G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.74+74G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+5251G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.74+74G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99160C>G
  hgvsp: ENSP00000343764.6:p.Gln33054Glu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587944
  gene symbol: TTN-AS1
  hgvsc: ENST00000587944.1:n.277G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.435+74G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.74+74G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.106864C>G
  hgvsp: ENSP00000467141.1:p.Gln35622Glu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80245C>G
  hgvsp: ENSP00000340554.6:p.Gln26749Glu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591332
  gene symbol: TTN-AS1
  hgvsc: ENST00000591332.1:n.345+5251G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+74G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.74+74G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79669C>G
  hgvsp: ENSP00000434586.1:p.Gln26557Glu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586831
  gene symbol: TTN-AS1
  hgvsc: ENST00000586831.1:n.74+74G>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.101941C>G
  hgvsp: ENSP00000465570.1:p.Gln33981Glu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.219+5251G>C
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln35622Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff

2-179393618-TTCGTTTATGC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393618
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393608
    reference: chr 2
allele count: 1
allele frequency: 8.296276631047985e-6
allele num: 120536
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585625
  gene symbol: TTN-AS1
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591332
  gene symbol: TTN-AS1
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588716
  gene symbol: TTN-AS1
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsp: ENSP00000343764.6:p.Ser33049LysfsTer7
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsp: ENSP00000434586.1:p.Ser26552LysfsTer7
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsp: ENSP00000340554.6:p.Ser26744LysfsTer7
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000604571
  gene symbol: TTN-AS1
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587944
  gene symbol: TTN-AS1
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586831
  gene symbol: TTN-AS1
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsp: ENSP00000467141.1:p.Ser35617LysfsTer7
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser35617LysfsTer7
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: TTCGTTTATGC
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

2-179393620-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393620
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393620
    reference: chr 2
allele count: 4
allele frequency: 3.318455590768056e-5
allele num: 120538
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591332
  gene symbol: TTN-AS1
  hgvsc: ENST00000591332.1:n.345+5257C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.101935G>A
  hgvsp: ENSP00000465570.1:p.Glu33979Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587568
  gene symbol: TTN-AS1
  hgvsc: ENST00000587568.1:n.343-2421C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.74+80C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.74+80C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80239G>A
  hgvsp: ENSP00000340554.6:p.Glu26747Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+5257C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.74+80C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.74+80C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.345+5257C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.435+80C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.560+80C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587944
  gene symbol: TTN-AS1
  hgvsc: ENST00000587944.1:n.283C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.80038G>A
  hgvsp: ENSP00000352154.5:p.Glu26680Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.106858G>A
  hgvsp: ENSP00000467141.1:p.Glu35620Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.74+80C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.74+80C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.74+80C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99154G>A
  hgvsp: ENSP00000343764.6:p.Glu33052Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+5257C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589391
  gene symbol: TTN-AS1
  hgvsc: ENST00000589391.1:n.74+80C>T
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu35620Lys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD

2-179393621-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393621
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393621
    reference: chr 2
allele count: 85
allele frequency: 7.051133158575837e-4
allele num: 120548
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000604571
  gene symbol: TTN-AS1
  hgvsc: ENST00000604571.1:n.321-2420G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80238C>T
  hgvsp: ENST00000342175.6:c.80238C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.74+81G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.74+81G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+5258G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.74+81G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585625
  gene symbol: TTN-AS1
  hgvsc: ENST00000585625.1:n.681-2420G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.74+81G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.106857C>T
  hgvsp: ENST00000589042.1:c.106857C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+5258G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.74+81G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99153C>T
  hgvsp: ENST00000342992.6:c.99153C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79662C>T
  hgvsp: ENST00000460472.2:c.79662C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+81G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.101934C>T
  hgvsp: ENST00000591111.1:c.101934C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.560+81G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.219+5258G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.471-2420G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+5258G>A
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn35619Asn
num of homozygotes: 1
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS

2-179393627-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393627
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393627
    reference: chr 2
allele count: 1
allele frequency: 8.29476268683953e-6
allele num: 120558
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+5264G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+5264G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587944
  gene symbol: TTN-AS1
  hgvsc: ENST00000587944.1:n.290G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.74+87G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99147C>T
  hgvsp: ENST00000342992.6:c.99147C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.74+87G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.74+87G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589391
  gene symbol: TTN-AS1
  hgvsc: ENST00000589391.1:n.74+87G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585625
  gene symbol: TTN-AS1
  hgvsc: ENST00000585625.1:n.681-2414G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79656C>T
  hgvsp: ENST00000460472.2:c.79656C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+5264G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.74+87G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.74+87G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.101928C>T
  hgvsp: ENST00000591111.1:c.101928C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.106851C>T
  hgvsp: ENST00000589042.1:c.106851C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.80031C>T
  hgvsp: ENST00000359218.5:c.80031C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000456053
  gene symbol: TTN-AS1
  hgvsc: ENST00000456053.1:n.413+5264G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589434
  gene symbol: TTN-AS1
  hgvsc: ENST00000589434.1:n.422+5264G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.74+87G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.471-2414G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80232C>T
  hgvsp: ENST00000342175.6:c.80232C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser35617Ser
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-179393641-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393641
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393641
    reference: chr 2
allele count: 6
allele frequency: 4.976692490171033e-5
allele num: 120562
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+5278A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.74+101A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587944
  gene symbol: TTN-AS1
  hgvsc: ENST00000587944.1:n.304A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+101A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.345+5278A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80218T>G
  hgvsp: ENSP00000340554.6:p.Ser26740Ala
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.74+101A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.101914T>G
  hgvsp: ENSP00000465570.1:p.Ser33972Ala
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.435+101A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.74+101A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587568
  gene symbol: TTN-AS1
  hgvsc: ENST00000587568.1:n.343-2400A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586831
  gene symbol: TTN-AS1
  hgvsc: ENST00000586831.1:n.74+101A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585487
  gene symbol: TTN-AS1
  hgvsc: ENST00000585487.1:n.345+5278A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585625
  gene symbol: TTN-AS1
  hgvsc: ENST00000585625.1:n.681-2400A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.219+5278A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+5278A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.74+101A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.80017T>G
  hgvsp: ENSP00000352154.5:p.Ser26673Ala
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.74+101A>C
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser35613Ala
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

2-179393641-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393641
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393641
    reference: chr 2
allele count: 2
allele frequency: 1.658897496723677e-5
allele num: 120562
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.74+101A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.74+101A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+5278A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.74+101A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+101A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000604571
  gene symbol: TTN-AS1
  hgvsc: ENST00000604571.1:n.321-2400A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+5278A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.74+101A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.101914T>C
  hgvsp: ENSP00000465570.1:p.Ser33972Pro
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.74+101A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.74+101A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.471-2400A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587568
  gene symbol: TTN-AS1
  hgvsc: ENST00000587568.1:n.343-2400A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585625
  gene symbol: TTN-AS1
  hgvsc: ENST00000585625.1:n.681-2400A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587944
  gene symbol: TTN-AS1
  hgvsc: ENST00000587944.1:n.304A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80218T>C
  hgvsp: ENSP00000340554.6:p.Ser26740Pro
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.80017T>C
  hgvsp: ENSP00000352154.5:p.Ser26673Pro
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99133T>C
  hgvsp: ENSP00000343764.6:p.Ser33045Pro
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586707
  gene symbol: TTN-AS1
  hgvsc: ENST00000586707.1:n.345+5278A>G
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser35613Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
reference allele: A
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

2-179393643-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393643
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393643
    reference: chr 2
allele count: 1
allele frequency: 8.294074713025015e-6
allele num: 120568
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+5280A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.74+103A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.74+103A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.74+103A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99131T>C
  hgvsp: ENSP00000343764.6:p.Phe33044Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+103A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.101912T>C
  hgvsp: ENSP00000465570.1:p.Phe33971Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.80015T>C
  hgvsp: ENSP00000352154.5:p.Phe26672Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.560+103A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.491+433A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80216T>C
  hgvsp: ENSP00000340554.6:p.Phe26739Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+5280A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.106835T>C
  hgvsp: ENSP00000467141.1:p.Phe35612Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000456053
  gene symbol: TTN-AS1
  hgvsc: ENST00000456053.1:n.413+5280A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.74+103A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587944
  gene symbol: TTN-AS1
  hgvsc: ENST00000587944.1:n.306A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79640T>C
  hgvsp: ENSP00000434586.1:p.Phe26547Ser
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585487
  gene symbol: TTN-AS1
  hgvsc: ENST00000585487.1:n.345+5280A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585625
  gene symbol: TTN-AS1
  hgvsc: ENST00000585625.1:n.681-2398A>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.74+103A>G
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Phe35612Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

2-179393650-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393650
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393650
    reference: chr 2
allele count: 1
allele frequency: 8.293524416135881e-6
allele num: 120576
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79633A>G
  hgvsp: ENSP00000434586.1:p.Lys26545Glu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000456053
  gene symbol: TTN-AS1
  hgvsc: ENST00000456053.1:n.413+5287T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.106828A>G
  hgvsp: ENSP00000467141.1:p.Lys35610Glu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.74+110T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.101905A>G
  hgvsp: ENSP00000465570.1:p.Lys33969Glu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585625
  gene symbol: TTN-AS1
  hgvsc: ENST00000585625.1:n.681-2391T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585487
  gene symbol: TTN-AS1
  hgvsc: ENST00000585487.1:n.345+5287T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+5287T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586707
  gene symbol: TTN-AS1
  hgvsc: ENST00000586707.1:n.345+5287T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.345+5287T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591332
  gene symbol: TTN-AS1
  hgvsc: ENST00000591332.1:n.345+5287T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.80008A>G
  hgvsp: ENSP00000352154.5:p.Lys26670Glu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587568
  gene symbol: TTN-AS1
  hgvsc: ENST00000587568.1:n.343-2391T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587944
  gene symbol: TTN-AS1
  hgvsc: ENST00000587944.1:n.313T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.74+110T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588257
  gene symbol: TTN-AS1
  hgvsc: ENST00000588257.1:n.74+110T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.471-2391T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.74+110T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+110T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80209A>G
  hgvsp: ENSP00000340554.6:p.Lys26737Glu
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.219+5287T>C
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys35610Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-179393651-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393651
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393651
    reference: chr 2
allele count: 24
allele frequency: 1.990379830817715e-4
allele num: 120580
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.345+5288A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+5288A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.491+441A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000456053
  gene symbol: TTN-AS1
  hgvsc: ENST00000456053.1:n.413+5288A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.74+111A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+5288A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79632T>G
  hgvsp: ENSP00000434586.1:p.Ile26544Met
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.74+111A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80208T>G
  hgvsp: ENSP00000340554.6:p.Ile26736Met
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.471-2390A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587944
  gene symbol: TTN-AS1
  hgvsc: ENST00000587944.1:n.314A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.80007T>G
  hgvsp: ENSP00000352154.5:p.Ile26669Met
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588716
  gene symbol: TTN-AS1
  hgvsc: ENST00000588716.1:n.74+111A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589391
  gene symbol: TTN-AS1
  hgvsc: ENST00000589391.1:n.74+111A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.74+111A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591466
  gene symbol: TTN-AS1
  hgvsc: ENST00000591466.1:n.74+111A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+111A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.101904T>G
  hgvsp: ENSP00000465570.1:p.Ile33968Met
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.74+111A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.74+111A>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.74+111A>C
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile35609Met
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum

2-179393653-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393653
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393653
    reference: chr 2
allele count: 1
allele frequency: 8.293111741387604e-6
allele num: 120582
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586831
  gene symbol: TTN-AS1
  hgvsc: ENST00000586831.1:n.74+113T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000456053
  gene symbol: TTN-AS1
  hgvsc: ENST00000456053.1:n.413+5290T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585625
  gene symbol: TTN-AS1
  hgvsc: ENST00000585625.1:n.681-2388T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587944
  gene symbol: TTN-AS1
  hgvsc: ENST00000587944.1:n.316T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+5290T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.106825A>G
  hgvsp: ENSP00000467141.1:p.Ile35609Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.74+113T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587568
  gene symbol: TTN-AS1
  hgvsc: ENST00000587568.1:n.343-2388T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.74+113T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586707
  gene symbol: TTN-AS1
  hgvsc: ENST00000586707.1:n.345+5290T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.74+113T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.101902A>G
  hgvsp: ENSP00000465570.1:p.Ile33968Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.80005A>G
  hgvsp: ENSP00000352154.5:p.Ile26669Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79630A>G
  hgvsp: ENSP00000434586.1:p.Ile26544Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.471-2388T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99121A>G
  hgvsp: ENSP00000343764.6:p.Ile33041Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.219+5290T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.345+5290T>C
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80206A>G
  hgvsp: ENSP00000340554.6:p.Ile26736Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.74+113T>C
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile35609Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum

2-179393656-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393656
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393656
    reference: chr 2
allele count: 1
allele frequency: 8.293111741387604e-6
allele num: 120582
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+116C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80203G>A
  hgvsp: ENSP00000340554.6:p.Glu26735Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.345+5293C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79627G>A
  hgvsp: ENSP00000434586.1:p.Glu26543Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+5293C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+5293C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000604571
  gene symbol: TTN-AS1
  hgvsc: ENST00000604571.1:n.321-2385C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.435+116C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.471-2385C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.491+446C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.74+116C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591332
  gene symbol: TTN-AS1
  hgvsc: ENST00000591332.1:n.345+5293C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99118G>A
  hgvsp: ENSP00000343764.6:p.Glu33040Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.74+116C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.101899G>A
  hgvsp: ENSP00000465570.1:p.Glu33967Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589391
  gene symbol: TTN-AS1
  hgvsc: ENST00000589391.1:n.74+116C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585625
  gene symbol: TTN-AS1
  hgvsc: ENST00000585625.1:n.681-2385C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.106822G>A
  hgvsp: ENSP00000467141.1:p.Glu35608Lys
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587568
  gene symbol: TTN-AS1
  hgvsc: ENST00000587568.1:n.343-2385C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587944
  gene symbol: TTN-AS1
  hgvsc: ENST00000587944.1:n.319C>T
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586707
  gene symbol: TTN-AS1
  hgvsc: ENST00000586707.1:n.345+5293C>T
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu35608Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

2-179393658-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393658
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393658
    reference: chr 2
allele count: 19
allele frequency: 1.575612830464059e-4
allele num: 120588
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.80000C>T
  hgvsp: ENSP00000352154.5:p.Ala26667Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.74+118G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+5295G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.345+5295G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.74+118G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.101897C>T
  hgvsp: ENSP00000465570.1:p.Ala33966Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.106820C>T
  hgvsp: ENSP00000467141.1:p.Ala35607Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.74+118G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.74+118G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000456053
  gene symbol: TTN-AS1
  hgvsc: ENST00000456053.1:n.413+5295G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587944
  gene symbol: TTN-AS1
  hgvsc: ENST00000587944.1:n.321G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590040
  gene symbol: TTN-AS1
  hgvsc: ENST00000590040.1:n.345+5295G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.219+5295G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000442329
  gene symbol: TTN-AS1
  hgvsc: ENST00000442329.2:n.471-2383G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99116C>T
  hgvsp: ENSP00000343764.6:p.Ala33039Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589434
  gene symbol: TTN-AS1
  hgvsc: ENST00000589434.1:n.422+5295G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.435+118G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+5295G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79625C>T
  hgvsp: ENSP00000434586.1:p.Ala26542Val
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586452
  gene symbol: TTN-AS1
  hgvsc: ENST00000586452.1:n.74+118G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80201C>T
  hgvsp: ENSP00000340554.6:p.Ala26734Val
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala35607Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

2-179393670-ACTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393670
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393667
    reference: chr 2
allele count: 2
allele frequency: 1.658319790388379e-5
allele num: 120604
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589391
  gene symbol: TTN-AS1
  hgvsc: ENST00000589391.1:n.74+136_74+138delTCT
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592689
  gene symbol: TTN-AS1
  hgvsc: ENST00000592689.1:n.74+136_74+138delTCT
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.101882_101884delAAG
  hgvsp: ENSP00000465570.1:p.Glu33961del
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587944
  gene symbol: TTN-AS1
  hgvsc: ENST00000587944.1:n.339_341delTCT
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.74+136_74+138delTCT
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80186_80188delAAG
  hgvsp: ENSP00000340554.6:p.Glu26729del
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.345+5313_345+5315delTCT
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.74+136_74+138delTCT
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+5313_345+5315delTCT
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.560+136_560+138delTCT
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99101_99103delAAG
  hgvsp: ENSP00000343764.6:p.Glu33034del
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589842
  gene symbol: TTN-AS1
  hgvsc: ENST00000589842.1:n.74+136_74+138delTCT
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589434
  gene symbol: TTN-AS1
  hgvsc: ENST00000589434.1:n.422+5313_422+5315delTCT
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.106805_106807delAAG
  hgvsp: ENSP00000467141.1:p.Glu35602del
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+5313_198+5315delTCT
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.79985_79987delAAG
  hgvsp: ENSP00000352154.5:p.Glu26662del
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+5313_345+5315delTCT
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+136_74+138delTCT
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.74+136_74+138delTCT
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79610_79612delAAG
  hgvsp: ENSP00000434586.1:p.Glu26537del
  variant of: http://identifiers.org/hgnc/12403
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu35602del
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: ACTT
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

2-179393683-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393683
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393683
    reference: chr 2
allele count: 4
allele frequency: 3.316474587513473e-5
allele num: 120610
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000434586
  ensembl transcript: ENST00000460472
  gene symbol: TTN
  hgvsc: ENST00000460472.2:c.79600G>C
  hgvsp: ENSP00000434586.1:p.Ala26534Pro
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586831
  gene symbol: TTN-AS1
  hgvsc: ENST00000586831.1:n.74+143C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000586707
  gene symbol: TTN-AS1
  hgvsc: ENST00000586707.1:n.345+5320C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000591867
  gene symbol: TTN-AS1
  hgvsc: ENST00000591867.1:n.74+143C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+5320C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.101872G>C
  hgvsp: ENSP00000465570.1:p.Ala33958Pro
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80176G>C
  hgvsp: ENSP00000340554.6:p.Ala26726Pro
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.74+143C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.435+143C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.79975G>C
  hgvsp: ENSP00000352154.5:p.Ala26659Pro
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.74+143C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+5320C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.106795G>C
  hgvsp: ENSP00000467141.1:p.Ala35599Pro
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000343764
  ensembl transcript: ENST00000342992
  gene symbol: TTN
  hgvsc: ENST00000342992.6:c.99091G>C
  hgvsp: ENSP00000343764.6:p.Ala33031Pro
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587944
  gene symbol: TTN-AS1
  hgvsc: ENST00000587944.1:n.346C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587568
  gene symbol: TTN-AS1
  hgvsc: ENST00000587568.1:n.343-2358C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+5320C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592182
  gene symbol: TTN-AS1
  hgvsc: ENST00000592182.1:n.491+473C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.74+143C>G
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000419746
  gene symbol: TTN-AS1
  hgvsc: ENST00000419746.1:n.219+5320C>G
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala35599Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

2-179393686-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 179393686
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 179393686
    reference: chr 2
allele count: 1
allele frequency: 8.2917364554485e-6
allele num: 120602
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585358
  gene symbol: TTN-AS1
  hgvsc: ENST00000585358.1:n.74+146G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000604571
  gene symbol: TTN-AS1
  hgvsc: ENST00000604571.1:n.321-2355G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588804
  gene symbol: TTN-AS1
  hgvsc: ENST00000588804.1:n.435+146G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592750
  gene symbol: TTN-AS1
  hgvsc: ENST00000592750.1:n.345+5323G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000589391
  gene symbol: TTN-AS1
  hgvsc: ENST00000589391.1:n.74+146G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588244
  gene symbol: TTN-AS1
  hgvsc: ENST00000588244.1:n.74+146G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592836
  gene symbol: TTN-AS1
  hgvsc: ENST00000592836.1:n.74+146G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000590807
  gene symbol: TTN-AS1
  hgvsc: ENST00000590807.1:n.74+146G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585451
  gene symbol: TTN-AS1
  hgvsc: ENST00000585451.1:n.198+5323G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000450692
  gene symbol: TTN-AS1
  hgvsc: ENST00000450692.2:n.74+146G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592630
  gene symbol: TTN-AS1
  hgvsc: ENST00000592630.1:n.345+5323G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000585625
  gene symbol: TTN-AS1
  hgvsc: ENST00000585625.1:n.681-2355G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000352154
  ensembl transcript: ENST00000359218
  gene symbol: TTN
  hgvsc: ENST00000359218.5:c.79972C>T
  hgvsp: ENSP00000352154.5:p.Gln26658Ter
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000592600
  gene symbol: TTN-AS1
  hgvsc: ENST00000592600.1:n.345+5323G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587568
  gene symbol: TTN-AS1
  hgvsc: ENST00000587568.1:n.343-2355G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000465570
  ensembl transcript: ENST00000591111
  gene symbol: TTN
  hgvsc: ENST00000591111.1:c.101869C>T
  hgvsp: ENSP00000465570.1:p.Gln33957Ter
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000587944
  gene symbol: TTN-AS1
  hgvsc: ENST00000587944.1:n.349G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000467141
  ensembl transcript: ENST00000589042
  gene symbol: TTN
  hgvsc: ENST00000589042.1:c.106792C>T
  hgvsp: ENSP00000467141.1:p.Gln35598Ter
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000431259
  gene symbol: TTN-AS1
  hgvsc: ENST00000431259.2:n.560+146G>A
  variant of: http://identifiers.org/hgnc/44124
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000155657
  ensembl protein: ENSP00000340554
  ensembl transcript: ENST00000342175
  gene symbol: TTN
  hgvsc: ENST00000342175.6:c.80173C>T
  hgvsp: ENSP00000340554.6:p.Gln26725Ter
  variant of: http://identifiers.org/hgnc/12403
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000237298
  ensembl transcript: ENST00000588716
  gene symbol: TTN-AS1
  hgvsc: ENST00000588716.1:n.74+146G>A
  variant of: http://identifiers.org/hgnc/44124
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln35598Ter
num of homozygotes: 0
population: East Asian
reference allele: G

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.346-42T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585625
gene symbol: TTN-AS1
hgvsc: ENST00000585625.1:n.681-2632T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585451
gene symbol: TTN-AS1
hgvsc: ENST00000585451.1:n.198+5046T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000604571
gene symbol: TTN-AS1
hgvsc: ENST00000604571.1:n.321-2632T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.345+5046T>C
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 2591
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 140
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2138
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 188
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5686
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31445
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 12631
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 384
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4750
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3434
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 821
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5022
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1907
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2359
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38889
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1291
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1285
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1949
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.307556452630251e-5
allele num: 15854
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63810
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8182
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10816
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.33405e6

MQRankSum
type: SiteQuality
SIO_000300: 1.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.159999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

FS
type: SiteQuality
SIO_000300: 1.603e0

QD
type: SiteQuality
SIO_000300: 1.203e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585625
gene symbol: TTN-AS1
hgvsc: ENST00000585625.1:n.681-2621G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.345+5057G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.422+5057G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.346-31G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+5057G>A
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 2231
bin: 3.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 5058
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 394
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 21
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4558
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 137
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2322
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13330
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31740
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3542
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1463
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4561
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 891
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1787
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2157
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1794
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 39521
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 750
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1464
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15908
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.215953307392996e-4
allele num: 8224
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64082
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.541e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.34e-1

MQ
type: SiteQuality
SIO_000300: 5.886e1

VQSLOD
type: SiteQuality
SIO_000300: -5.256999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.93e-1

QD
type: SiteQuality
SIO_000300: 1.251e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

DP
type: SiteQuality
SIO_000300: 1.350739e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.02e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5059C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+5059C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585451
gene symbol: TTN-AS1
hgvsc: ENST00000585451.1:n.198+5059C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000352154
ensembl transcript: ENST00000359218
gene symbol: TTN
hgvsc: ENST00000359218.5:c.80236G>A
hgvsp: ENSP00000352154.5:p.Val26746Ile
variant of: http://identifiers.org/hgnc/12403

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

GenotypeDepth
all individuals: 22
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13471
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2286
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 394
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4938
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 192
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 138
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4564
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2283
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31690
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1783
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3524
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1763
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4467
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1511
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38903
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 917
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2154
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1017
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1624
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10870
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8236
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.683548256158866e-5
allele num: 64054
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.065643648763853e-4
allele num: 9384
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.88e-1

FS
type: SiteQuality
SIO_000300: 9.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.354171e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

QD
type: SiteQuality
SIO_000300: 1.092e1

VQSLOD
type: SiteQuality
SIO_000300: 7.56e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+5065C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+5065C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.471-2613C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.491+218C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585451
gene symbol: TTN-AS1
hgvsc: ENST00000585451.1:n.198+5065C>T
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 97
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4461
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4091
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 140
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13974
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2290
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 23
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32347
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 192
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2065
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 401
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1564
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1915
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1291
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3683
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 789
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4086
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 665
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 803
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1553
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41222
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1117
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64348
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10966
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8280
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.880641925777332e-4
allele num: 15952
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

FS
type: SiteQuality
SIO_000300: 1.375e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.45e-1

DP
type: SiteQuality
SIO_000300: 1.368095e6

QD
type: SiteQuality
SIO_000300: 1.286e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.3e-2

MQ
type: SiteQuality
SIO_000300: 5.948e1

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+5088G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.422+5088G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5088G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.345+5088G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585451
gene symbol: TTN-AS1
hgvsc: ENST00000585451.1:n.198+5088G>A
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 21
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33421
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1597
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 191
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3466
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 409
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 99
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2460
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3396
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14890
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 22
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 946
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1281
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43269
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3983
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1430
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1254
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3241
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64946
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.806684733514002e-4
allele num: 11070
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16038
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.675e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.395662e6

VQSLOD
type: SiteQuality
SIO_000300: 1.15e-1

QD
type: SiteQuality
SIO_000300: 8.779999999999999e0

FS
type: SiteQuality
SIO_000300: 9.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -9.24e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+5099T>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5099T>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000340554
ensembl transcript: ENST00000342175
gene symbol: TTN
hgvsc: ENST00000342175.6:c.80397A>C
hgvsp: ENSP00000340554.6:p.Glu26799Asp
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.345+5099T>G
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 185
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 146
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3351
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1432
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15568
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2571
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 413
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3080
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33231
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 21
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1348
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 825
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3020
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42988
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4061
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 933
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1159
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1228
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65188
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8418
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.225874735400324e-5
allele num: 16062
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.484e0

FS
type: SiteQuality
SIO_000300: 2.048e0

MQRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.406458e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

VQSLOD
type: SiteQuality
SIO_000300: 7.12e-1

QD
type: SiteQuality
SIO_000300: 1.389e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000343764
ensembl transcript: ENST00000342992
gene symbol: TTN
hgvsc: ENST00000342992.6:c.99305G>C
hgvsp: ENSP00000343764.6:p.Arg33102Thr
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000434586
ensembl transcript: ENST00000460472
gene symbol: TTN
hgvsc: ENST00000460472.2:c.79814G>C
hgvsp: ENSP00000434586.1:p.Arg26605Thr
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000352154
ensembl transcript: ENST00000359218
gene symbol: TTN
hgvsc: ENST00000359218.5:c.80189G>C
hgvsp: ENSP00000352154.5:p.Arg26730Thr
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.364C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+5106C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.345+5106C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000587568
gene symbol: TTN-AS1
hgvsc: ENST00000587568.1:n.343-2572C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+5106C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585451
gene symbol: TTN-AS1
hgvsc: ENST00000585451.1:n.198+5106C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.345+5106C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000604571
gene symbol: TTN-AS1
hgvsc: ENST00000604571.1:n.321-2572C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.3C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591867
gene symbol: TTN-AS1
hgvsc: ENST00000591867.1:n.3C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.489C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592689
gene symbol: TTN-AS1
hgvsc: ENST00000592689.1:n.3C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.219+5106C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.491+259C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.3C>G
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 1317
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 423
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 5.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 192
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32926
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 15962
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3450
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2600
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 2965
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 186
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 21
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1387
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 615
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 924
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 910
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1256
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4094
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1224
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 706
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42717
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2916
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1058
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11162
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.182350480970305e-4
allele num: 9564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65304
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16092
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.907e1

DP
type: SiteQuality
SIO_000300: 1.412092e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.292e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.1e-2

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590807
gene symbol: TTN-AS1
hgvsc: ENST00000590807.1:n.10T>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585625
gene symbol: TTN-AS1
hgvsc: ENST00000585625.1:n.681-2565T>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.219+5113T>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.10T>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.10T>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5113T>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.345+5113T>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.10T>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.496T>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585451
gene symbol: TTN-AS1
hgvsc: ENST00000585451.1:n.198+5113T>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592689
gene symbol: TTN-AS1
hgvsc: ENST00000592689.1:n.10T>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+5113T>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592750
gene symbol: TTN-AS1
hgvsc: ENST00000592750.1:n.345+5113T>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.345+5113T>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.10T>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.345+5113T>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.10T>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000587944
gene symbol: TTN-AS1
hgvsc: ENST00000587944.1:n.139T>G
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 27
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2794
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 73
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1230
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2947
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16232
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31410
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 186
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4178
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 586
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 325
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1519
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1410
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 942
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1736
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40743
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1117
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2883
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1661
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3750
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1806
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
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: 16112
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.364066193853428e-4
allele num: 8460
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65336
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

FS
type: SiteQuality
SIO_000300: 9.12e-1

QD
type: SiteQuality
SIO_000300: 1.455e1

DP
type: SiteQuality
SIO_000300: 1.421405e6

VQSLOD
type: SiteQuality
SIO_000300: 6.75e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.694e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.345+5119G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000352154
ensembl transcript: ENST00000359218
gene symbol: TTN
hgvsc: ENST00000359218.5:c.80176C>G
hgvsp: ENSP00000352154.5:p.Gln26726Glu
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.422+5119G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.16G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585358
gene symbol: TTN-AS1
hgvsc: ENST00000585358.1:n.16G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000604571
gene symbol: TTN-AS1
hgvsc: ENST00000604571.1:n.321-2559G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+5119G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.471-2559G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.491+272G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000587944
gene symbol: TTN-AS1
hgvsc: ENST00000587944.1:n.145G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592750
gene symbol: TTN-AS1
hgvsc: ENST00000592750.1:n.345+5119G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5119G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+5119G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585451
gene symbol: TTN-AS1
hgvsc: ENST00000585451.1:n.198+5119G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.16G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.345+5119G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000465570
ensembl transcript: ENST00000591111
gene symbol: TTN
hgvsc: ENST00000591111.1:c.102073C>G
hgvsp: ENSP00000465570.1:p.Gln34025Glu
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.16G>C
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 36
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2877
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 722
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2885
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4339
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1180
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 16143
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31150
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 301
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 37
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 281
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 26
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2732
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1715
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1131
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1724
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1452
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39959
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1078
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1621
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1283
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1534
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 184
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3303
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5950
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8252
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16010
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.093135111499781e-4
allele num: 9148
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10864
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.571388164304346e-5
allele num: 63638
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.52e0

MQRankSum
type: SiteQuality
SIO_000300: 2.81e-1

FS
type: SiteQuality
SIO_000300: 1.41024e2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.031e0

MQ
type: SiteQuality
SIO_000300: 5.865e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

DP
type: SiteQuality
SIO_000300: 1.436592e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.123e0

QD
type: SiteQuality
SIO_000300: 1.42e0

VQSLOD
type: SiteQuality
SIO_000300: -9.581999999999999e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000465570
ensembl transcript: ENST00000591111
gene symbol: TTN
hgvsc: ENST00000591111.1:c.102073C>A
hgvsp: ENSP00000465570.1:p.Gln34025Lys
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+5119G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.491+272G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592750
gene symbol: TTN-AS1
hgvsc: ENST00000592750.1:n.345+5119G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585625
gene symbol: TTN-AS1
hgvsc: ENST00000585625.1:n.681-2559G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.471-2559G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590807
gene symbol: TTN-AS1
hgvsc: ENST00000590807.1:n.16G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+5119G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.16G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.345+5119G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585451
gene symbol: TTN-AS1
hgvsc: ENST00000585451.1:n.198+5119G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.16G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.345+5119G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592689
gene symbol: TTN-AS1
hgvsc: ENST00000592689.1:n.16G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5119G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.16G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.422+5119G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.16G>T
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 36
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 31150
bin: 2.25e1
variant carriers: 5

GenotypeDepth
all individuals: 2885
bin: 1.25e1
variant carriers: 3

GenotypeDepth
all individuals: 37
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 27
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4339
bin: 1.75e1
variant carriers: 5

GenotypeDepth
all individuals: 28
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 301
bin: 4.25e1
variant carriers: 4

GenotypeDepth
all individuals: 2877
bin: 3.25e1
variant carriers: 13

GenotypeDepth
all individuals: 281
bin: 9.75e1
variant carriers: 15

GenotypeDepth
all individuals: 151
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1180
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 16143
bin: 2.75e1
variant carriers: 9

GenotypeDepth
all individuals: 722
bin: 3.75e1
variant carriers: 8

GenotypeDepth
all individuals: 26
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 8.25e1
variant carriers: 2

GenotypeDepth
all individuals: 18
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1283
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1452
bin: 2.75e1
variant carriers: 4

GenotypeQuality
all individuals: 378
bin: 7.5e0
variant carriers: 8

GenotypeQuality
all individuals: 1078
bin: 2.5e0
variant carriers: 6

GenotypeQuality
all individuals: 2732
bin: 2.25e1
variant carriers: 5

GenotypeQuality
all individuals: 3303
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 64
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1724
bin: 3.25e1
variant carriers: 2

GenotypeQuality
all individuals: 329
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1131
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39959
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 528
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 418
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 1534
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1715
bin: 3.75e1
variant carriers: 8

GenotypeQuality
all individuals: 690
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 57
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 309
bin: 1.25e1
variant carriers: 4

GenotypeQuality
all individuals: 184
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1621
bin: 4.75e1
variant carriers: 2

Latino
type: Population
allele count: 5
allele frequency: 4.602356406480118e-4
allele num: 10864
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.423654871546292e-4
allele num: 8252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 30
allele frequency: 4.714164492913039e-4
allele num: 63638
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.279405334499344e-4
allele num: 9148
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16010
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 8
allele frequency: 1.34453781512605e-3
allele num: 5950
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.031e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.123e0

FS
type: SiteQuality
SIO_000300: 1.41024e2

MQ
type: SiteQuality
SIO_000300: 5.865e1

MQRankSum
type: SiteQuality
SIO_000300: 2.81e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.581999999999999e1

QD
type: SiteQuality
SIO_000300: 1.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.52e0

DP
type: SiteQuality
SIO_000300: 1.436592e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.17C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.17C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.219+5120C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+5120C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592750
gene symbol: TTN-AS1
hgvsc: ENST00000592750.1:n.345+5120C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585451
gene symbol: TTN-AS1
hgvsc: ENST00000585451.1:n.198+5120C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.471-2558C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.422+5120C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.17C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585358
gene symbol: TTN-AS1
hgvsc: ENST00000585358.1:n.17C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.345+5120C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.345+5120C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5120C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.17C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592836
gene symbol: TTN-AS1
hgvsc: ENST00000592836.1:n.17C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000587568
gene symbol: TTN-AS1
hgvsc: ENST00000587568.1:n.343-2558C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.345+5120C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.491+273C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.17C>T
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31603
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1170
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2583
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2916
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4374
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 21
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16784
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 126
bin: 9.75e1
variant carriers: 5

GenotypeDepth
all individuals: 396
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2695
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1053
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 191
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 943
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1377
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1658
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1224
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1578
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 234
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 833
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42674
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 602
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8470
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11172
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.657671455263884e-5
allele num: 65294
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16104
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.81196e2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.66e0

MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

DP
type: SiteQuality
SIO_000300: 1.40332e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.218e0

MQ
type: SiteQuality
SIO_000300: 5.647e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

QD
type: SiteQuality
SIO_000300: 1.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.708e0

VQSLOD
type: SiteQuality
SIO_000300: -1.556e2

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000465570
ensembl transcript: ENST00000591111
gene symbol: TTN
hgvsc: ENST00000591111.1:c.102071A>G
hgvsp: ENSP00000465570.1:p.Lys34024Arg
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.18T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000434586
ensembl transcript: ENST00000460472
gene symbol: TTN
hgvsc: ENST00000460472.2:c.79799A>G
hgvsp: ENSP00000434586.1:p.Lys26600Arg
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000352154
ensembl transcript: ENST00000359218
gene symbol: TTN
hgvsc: ENST00000359218.5:c.80174A>G
hgvsp: ENSP00000352154.5:p.Lys26725Arg
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.379T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592750
gene symbol: TTN-AS1
hgvsc: ENST00000592750.1:n.345+5121T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.345+5121T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.18T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.219+5121T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+5121T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.345+5121T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585451
gene symbol: TTN-AS1
hgvsc: ENST00000585451.1:n.198+5121T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5121T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000587944
gene symbol: TTN-AS1
hgvsc: ENST00000587944.1:n.147T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000587568
gene symbol: TTN-AS1
hgvsc: ENST00000587568.1:n.343-2557T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592689
gene symbol: TTN-AS1
hgvsc: ENST00000592689.1:n.18T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591466
gene symbol: TTN-AS1
hgvsc: ENST00000591466.1:n.18T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000604571
gene symbol: TTN-AS1
hgvsc: ENST00000604571.1:n.321-2557T>C
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31794
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16850
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2490
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 148
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2874
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1161
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 366
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4297
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 120
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 774
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2666
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1338
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1617
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1068
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 669
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 841
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4047
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1488
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43576
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16130
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.044932079414838e-4
allele num: 9570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65434
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.402558e6

QD
type: SiteQuality
SIO_000300: 9.199999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -1.046e0

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQ
type: SiteQuality
SIO_000300: 5.875e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585358
gene symbol: TTN-AS1
hgvsc: ENST00000585358.1:n.20G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591466
gene symbol: TTN-AS1
hgvsc: ENST00000591466.1:n.20G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.491+276G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592689
gene symbol: TTN-AS1
hgvsc: ENST00000592689.1:n.20G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.345+5123G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000587568
gene symbol: TTN-AS1
hgvsc: ENST00000587568.1:n.343-2555G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.506G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.20G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+5123G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.20G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.20G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.345+5123G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.20G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+5123G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+5123G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000604571
gene symbol: TTN-AS1
hgvsc: ENST00000604571.1:n.321-2555G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585451
gene symbol: TTN-AS1
hgvsc: ENST00000585451.1:n.198+5123G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000587944
gene symbol: TTN-AS1
hgvsc: ENST00000587944.1:n.149G>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592750
gene symbol: TTN-AS1
hgvsc: ENST00000592750.1:n.345+5123G>T
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 2531
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 21
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 374
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4583
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16803
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31553
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2842
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1145
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 121
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 101
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1671
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42031
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2650
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 968
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1300
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1576
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1283
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1399
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3889
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 225
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.180637544273908e-4
allele num: 8470
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.538935056940597e-4
allele num: 6498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16128
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11184
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65402
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

QD
type: SiteQuality
SIO_000300: 7.35e0

DP
type: SiteQuality
SIO_000300: 1.401947e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.257e0

FS
type: SiteQuality
SIO_000300: 1.3182e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e0

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.141e0

VQSLOD
type: SiteQuality
SIO_000300: -2.918e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000587944
gene symbol: TTN-AS1
hgvsc: ENST00000587944.1:n.151T>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5125T>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+5125T>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+5125T>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.345+5125T>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.471-2553T>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
hgvsc: ENST00000589842.1:n.22T>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585358
gene symbol: TTN-AS1
hgvsc: ENST00000585358.1:n.22T>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+5125T>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.22T>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585451
gene symbol: TTN-AS1
hgvsc: ENST00000585451.1:n.198+5125T>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.345+5125T>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.22T>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.345+5125T>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.22T>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.219+5125T>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000604571
gene symbol: TTN-AS1
hgvsc: ENST00000604571.1:n.321-2553T>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000587568
gene symbol: TTN-AS1
hgvsc: ENST00000587568.1:n.343-2553T>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.22T>A
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 77
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1125
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2811
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16980
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4480
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2446
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31636
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 22
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43203
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3981
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1604
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1382
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2619
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 875
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 874
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1167
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1496
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1031
bin: 5.25e1
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: 9580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526764176005374e-5
allele num: 65498
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16136
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.402513e6

VQSLOD
type: SiteQuality
SIO_000300: -4.707e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

FS
type: SiteQuality
SIO_000300: 2.7637e1

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.04e-1

MQ
type: SiteQuality
SIO_000300: 5.782e1

QD
type: SiteQuality
SIO_000300: 1.325e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.246e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
hgvsc: ENST00000589842.1:n.30G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591867
gene symbol: TTN-AS1
hgvsc: ENST00000591867.1:n.30G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000587568
gene symbol: TTN-AS1
hgvsc: ENST00000587568.1:n.343-2545G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592836
gene symbol: TTN-AS1
hgvsc: ENST00000592836.1:n.30G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.345+5133G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5133G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585358
gene symbol: TTN-AS1
hgvsc: ENST00000585358.1:n.30G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.516G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592750
gene symbol: TTN-AS1
hgvsc: ENST00000592750.1:n.345+5133G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.30G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585451
gene symbol: TTN-AS1
hgvsc: ENST00000585451.1:n.198+5133G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+5133G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+5133G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.30G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000587944
gene symbol: TTN-AS1
hgvsc: ENST00000587944.1:n.159G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.219+5133G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.422+5133G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000604571
gene symbol: TTN-AS1
hgvsc: ENST00000604571.1:n.321-2545G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.30G>A
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 4389
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2632
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2513
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 148
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 17249
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31627
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 366
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1064
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 77
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 118
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43149
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1275
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2467
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1350
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4013
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1215
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1471
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1508
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 70
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9592
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16146
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11212
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.128668171557562e-3
allele num: 886
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.155e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.599e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.439e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.102e0

DP
type: SiteQuality
SIO_000300: 1.407753e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 5.889e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+5141G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.38G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000465570
ensembl transcript: ENST00000591111
gene symbol: TTN
hgvsc: ENST00000591111.1:c.102051C>T
hgvsp: ENST00000591111.1:c.102051C>T(p.%3D)
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.345+5141G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592689
gene symbol: TTN-AS1
hgvsc: ENST00000592689.1:n.38G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000587944
gene symbol: TTN-AS1
hgvsc: ENST00000587944.1:n.167G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.38G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.38G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.524G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.219+5141G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585625
gene symbol: TTN-AS1
hgvsc: ENST00000585625.1:n.681-2537G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5141G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.345+5141G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000587568
gene symbol: TTN-AS1
hgvsc: ENST00000587568.1:n.343-2537G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.345+5141G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000604571
gene symbol: TTN-AS1
hgvsc: ENST00000604571.1:n.321-2537G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592836
gene symbol: TTN-AS1
hgvsc: ENST00000592836.1:n.38G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.38G>A
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 18229
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 2319
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 948
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2652
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 3455
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 23
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31882
bin: 2.25e1
variant carriers: 3

GenotypeDepth
all individuals: 141
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 386
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 74
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1055
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1288
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 742
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44934
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1023
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3947
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 438
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 65
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2114
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1191
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1143
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9616
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: 11236
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.063725490196078e-4
allele num: 6528
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.188118811881188e-5
allele num: 16160
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.142996464708034e-5
allele num: 65624
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.3e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.7e-2

DP
type: SiteQuality
SIO_000300: 1.42238e6

FS
type: SiteQuality
SIO_000300: 4.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

QD
type: SiteQuality
SIO_000300: 1.214e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.61e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.39C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592836
gene symbol: TTN-AS1
hgvsc: ENST00000592836.1:n.39C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000352154
ensembl transcript: ENST00000359218
gene symbol: TTN
hgvsc: ENST00000359218.5:c.80153G>A
hgvsp: ENSP00000352154.5:p.Ser26718Asn
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5142C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585451
gene symbol: TTN-AS1
hgvsc: ENST00000585451.1:n.198+5142C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585358
gene symbol: TTN-AS1
hgvsc: ENST00000585358.1:n.39C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.345+5142C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.219+5142C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.491+295C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.422+5142C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+5142C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.345+5142C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.400C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000587944
gene symbol: TTN-AS1
hgvsc: ENST00000587944.1:n.168C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.345+5142C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000587568
gene symbol: TTN-AS1
hgvsc: ENST00000587568.1:n.343-2536C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000604571
gene symbol: TTN-AS1
hgvsc: ENST00000604571.1:n.321-2536C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.471-2536C>T
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 2603
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32106
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3270
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2260
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18326
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 372
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 941
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 138
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 946
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1088
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45379
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1236
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3979
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1132
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2069
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16158
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11248
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.043862052171795e-5
allele num: 65706
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.423725e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQRankSum
type: SiteQuality
SIO_000300: 2.25e0

VQSLOD
type: SiteQuality
SIO_000300: -9.854000000000001e-1

FS
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 1.435e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585358
gene symbol: TTN-AS1
hgvsc: ENST00000585358.1:n.53A>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.53A>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+5156A>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.539A>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: stop_gained
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000467141
ensembl transcript: ENST00000589042
gene symbol: TTN
hgvsc: ENST00000589042.1:c.106959T>A
hgvsp: ENSP00000467141.1:p.Tyr35653Ter
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591466
gene symbol: TTN-AS1
hgvsc: ENST00000591466.1:n.53A>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5156A>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+5156A>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.345+5156A>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.345+5156A>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.422+5156A>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.471-2522A>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585451
gene symbol: TTN-AS1
hgvsc: ENST00000585451.1:n.198+5156A>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.491+309A>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.53A>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592750
gene symbol: TTN-AS1
hgvsc: ENST00000592750.1:n.345+5156A>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000604571
gene symbol: TTN-AS1
hgvsc: ENST00000604571.1:n.321-2522A>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+5156A>T
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 2738
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 75
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19462
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 370
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1931
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 733
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 33058
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1600
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 119
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48158
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1476
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 715
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4125
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 5.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9672
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516208266367468e-5
allele num: 65954
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6546
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.67e-1

DP
type: SiteQuality
SIO_000300: 1.447192e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

MQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

QD
type: SiteQuality
SIO_000300: 1.512e1

MQ
type: SiteQuality
SIO_000300: 5.937e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.67e-1

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.418C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.345+5160C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585358
gene symbol: TTN-AS1
hgvsc: ENST00000585358.1:n.57C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591466
gene symbol: TTN-AS1
hgvsc: ENST00000591466.1:n.57C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000352154
ensembl transcript: ENST00000359218
gene symbol: TTN
hgvsc: ENST00000359218.5:c.80135G>A
hgvsp: ENSP00000352154.5:p.Arg26712Gln
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
hgvsc: ENST00000589842.1:n.57C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.57C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.491+313C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585625
gene symbol: TTN-AS1
hgvsc: ENST00000585625.1:n.681-2518C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.219+5160C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.57C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585451
gene symbol: TTN-AS1
hgvsc: ENST00000585451.1:n.198+5160C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.543C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.345+5160C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000604571
gene symbol: TTN-AS1
hgvsc: ENST00000604571.1:n.321-2518C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590807
gene symbol: TTN-AS1
hgvsc: ENST00000590807.1:n.57C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+5160C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5160C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+5160C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.422+5160C>T
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 1465
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 21
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 33098
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 133
bin: 4.25e1
variant carriers: 4

GenotypeDepth
all individuals: 1736
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 107
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2850
bin: 3.25e1
variant carriers: 5

GenotypeDepth
all individuals: 687
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 19653
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 23
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 114
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 384
bin: 3.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1340
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48168
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4053
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 828
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 9.75e1
variant carriers: 21

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
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: 8536
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.730334010860662e-4
allele num: 65926
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.230920728705071e-4
allele num: 16248
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.841732979664014e-5
allele num: 11310
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.368e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e-1

FS
type: SiteQuality
SIO_000300: 1.097e0

VQSLOD
type: SiteQuality
SIO_000300: 2.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.452982e6

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.2e-2

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.345+5161G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5161G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.58G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.58G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.219+5161G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.471-2517G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000587944
gene symbol: TTN-AS1
hgvsc: ENST00000587944.1:n.187G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585625
gene symbol: TTN-AS1
hgvsc: ENST00000585625.1:n.681-2517G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.58G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591466
gene symbol: TTN-AS1
hgvsc: ENST00000591466.1:n.58G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590807
gene symbol: TTN-AS1
hgvsc: ENST00000590807.1:n.58G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591867
gene symbol: TTN-AS1
hgvsc: ENST00000591867.1:n.58G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000604571
gene symbol: TTN-AS1
hgvsc: ENST00000604571.1:n.321-2517G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.58G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.345+5161G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+5161G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+5161G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.544G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.58G>A
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 82
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2862
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33155
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 388
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1406
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1640
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19755
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 669
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 107
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 133
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 676
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1285
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 698
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 825
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4076
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 52
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48695
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
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: 6.148548942449582e-5
allele num: 16264
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515978412467406e-5
allele num: 65964
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.156e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.64e-1

DP
type: SiteQuality
SIO_000300: 1.455185e6

QD
type: SiteQuality
SIO_000300: 1.426e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: 6.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 1.399e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591466
gene symbol: TTN-AS1
hgvsc: ENST00000591466.1:n.59G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.219+5162G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.59G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.491+315G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.422+5162G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.59G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585625
gene symbol: TTN-AS1
hgvsc: ENST00000585625.1:n.681-2516G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000587568
gene symbol: TTN-AS1
hgvsc: ENST00000587568.1:n.343-2516G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000604571
gene symbol: TTN-AS1
hgvsc: ENST00000604571.1:n.321-2516G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.471-2516G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000352154
ensembl transcript: ENST00000359218
gene symbol: TTN
hgvsc: ENST00000359218.5:c.80133C>T
hgvsp: ENST00000359218.5:c.80133C>T(p.%3D)
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.345+5162G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590807
gene symbol: TTN-AS1
hgvsc: ENST00000590807.1:n.59G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.345+5162G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5162G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592750
gene symbol: TTN-AS1
hgvsc: ENST00000592750.1:n.345+5162G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.59G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+5162G>A
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 649
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 33244
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1583
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1363
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19847
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 113
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 383
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2818
bin: 3.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 347
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 81
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 828
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48760
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4107
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 622
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.514554872323024e-5
allele num: 66026
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9680
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16278
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e0

VQSLOD
type: SiteQuality
SIO_000300: -2.331e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

FS
type: SiteQuality
SIO_000300: 1.3469e1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 1.37e1

DP
type: SiteQuality
SIO_000300: 1.455784e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590807
gene symbol: TTN-AS1
hgvsc: ENST00000590807.1:n.65C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+5168C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591867
gene symbol: TTN-AS1
hgvsc: ENST00000591867.1:n.65C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.65C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592689
gene symbol: TTN-AS1
hgvsc: ENST00000592689.1:n.65C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.219+5168C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5168C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000604571
gene symbol: TTN-AS1
hgvsc: ENST00000604571.1:n.321-2510C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.345+5168C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.65C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592836
gene symbol: TTN-AS1
hgvsc: ENST00000592836.1:n.65C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+5168C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585451
gene symbol: TTN-AS1
hgvsc: ENST00000585451.1:n.198+5168C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000587568
gene symbol: TTN-AS1
hgvsc: ENST00000587568.1:n.343-2510C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592750
gene symbol: TTN-AS1
hgvsc: ENST00000592750.1:n.345+5168C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.471-2510C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.345+5168C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.65C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
hgvsc: ENST00000589842.1:n.65C>G
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 380
bin: 3.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20188
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1105
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 566
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2849
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33611
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1191
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49987
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4129
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 454
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512081531436175e-5
allele num: 66134
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16322
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9696
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.07e0

MQRankSum
type: SiteQuality
SIO_000300: -1.11e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.463661e6

VQSLOD
type: SiteQuality
SIO_000300: 3.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.389999999999999e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000352154
ensembl transcript: ENST00000359218
gene symbol: TTN
hgvsc: ENST00000359218.5:c.80107G>A
hgvsp: ENSP00000352154.5:p.Val26703Ile
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000340554
ensembl transcript: ENST00000342175
gene symbol: TTN
hgvsc: ENST00000342175.6:c.80308G>A
hgvsp: ENSP00000340554.6:p.Val26770Ile
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+11C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.74+11C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000604571
gene symbol: TTN-AS1
hgvsc: ENST00000604571.1:n.321-2490C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.345+5188C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+11C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5188C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592750
gene symbol: TTN-AS1
hgvsc: ENST00000592750.1:n.345+5188C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591867
gene symbol: TTN-AS1
hgvsc: ENST00000591867.1:n.74+11C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.422+5188C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.74+11C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+5188C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
hgvsc: ENST00000589842.1:n.74+11C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.491+341C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.471-2490C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.219+5188C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.345+5188C>T
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 599
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 396
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 574
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33584
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 22
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 32
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 21287
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 7.25e1
variant carriers: 2

GenotypeDepth
all individuals: 402
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3037
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51374
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 838
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 265
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 188
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4189
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16386
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.526252263126132e-5
allele num: 66280
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.496503496503497e-4
allele num: 8580
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9736
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.048e0

QD
type: SiteQuality
SIO_000300: 1.289e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.207e0

MQRankSum
type: SiteQuality
SIO_000300: 6.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

FS
type: SiteQuality
SIO_000300: 2.801e0

DP
type: SiteQuality
SIO_000300: 1.483249e6

VQSLOD
type: SiteQuality
SIO_000300: 9.23e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+5189G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.74+12G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.491+342G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+12G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585358
gene symbol: TTN-AS1
hgvsc: ENST00000585358.1:n.74+12G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5189G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.435+12G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591867
gene symbol: TTN-AS1
hgvsc: ENST00000591867.1:n.74+12G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.345+5189G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.471-2489G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.345+5189G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000604571
gene symbol: TTN-AS1
hgvsc: ENST00000604571.1:n.321-2489G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.74+12G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+5189G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.74+12G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.219+5189G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.422+5189G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.74+12G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000587944
gene symbol: TTN-AS1
hgvsc: ENST00000587944.1:n.215G>A
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 552
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 138
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 32
bin: 5.25e1
variant carriers: 2

GenotypeDepth
all individuals: 385
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3062
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33577
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 20
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 384
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 577
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21346
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4196
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 82
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51478
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.03172688340672e-5
allele num: 66316
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.5220700152207e-4
allele num: 6570
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.759635599159075e-5
allele num: 11416
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.827505827505828e-4
allele num: 8580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9734
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.864e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.85e-1

DP
type: SiteQuality
SIO_000300: 1.484064e6

QD
type: SiteQuality
SIO_000300: 1.04e1

Annotation
canonical: false
clinical significance: likely_benign
consequence: synonymous_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000352154
ensembl transcript: ENST00000359218
gene symbol: TTN
hgvsc: ENST00000359218.5:c.80100G>A
hgvsp: ENST00000359218.5:c.80100G>A(p.%3D)
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
clinical significance: likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592689
gene symbol: TTN-AS1
hgvsc: ENST00000592689.1:n.74+18C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+18C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+5195C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585451
gene symbol: TTN-AS1
hgvsc: ENST00000585451.1:n.198+5195C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.435+18C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
clinical significance: likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.219+5195C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.471-2483C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+18C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+5195C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.345+5195C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.422+5195C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.74+18C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585625
gene symbol: TTN-AS1
hgvsc: ENST00000585625.1:n.681-2483C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.74+18C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000604571
gene symbol: TTN-AS1
hgvsc: ENST00000604571.1:n.321-2483C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
clinical significance: likely_benign
consequence: synonymous_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000467141
ensembl transcript: ENST00000589042
gene symbol: TTN
hgvsc: ENST00000589042.1:c.106920G>A
hgvsp: ENST00000589042.1:c.106920G>A(p.%3D)
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
clinical significance: likely_benign
consequence: synonymous_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000343764
ensembl transcript: ENST00000342992
gene symbol: TTN
hgvsc: ENST00000342992.6:c.99216G>A
hgvsp: ENST00000342992.6:c.99216G>A(p.%3D)
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
clinical significance: likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5195C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: likely_benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+5195C>T
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 437
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 113
bin: 9.75e1
variant carriers: 7

GenotypeDepth
all individuals: 330
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 6.75e1
variant carriers: 3

GenotypeDepth
all individuals: 89
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 5.75e1
variant carriers: 5

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 429
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 33681
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 4.25e1
variant carriers: 4

GenotypeDepth
all individuals: 21540
bin: 2.75e1
variant carriers: 7

GenotypeDepth
all individuals: 391
bin: 3.75e1
variant carriers: 12

GenotypeDepth
all individuals: 3048
bin: 3.25e1
variant carriers: 9

GenotypeDepth
all individuals: 18
bin: 7.75e1
variant carriers: 2

GenotypeDepth
all individuals: 20
bin: 7.25e1
variant carriers: 3

GenotypeDepth
all individuals: 88
bin: 4.75e1
variant carriers: 11

GenotypeDepth
all individuals: 36
bin: 5.25e1
variant carriers: 5

GenotypeDepth
all individuals: 20
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 92
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52040
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 184
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4243
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 499
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 9.75e1
variant carriers: 71

GenotypeQuality
all individuals: 855
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.047921359819783e-4
allele num: 9766
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.654080389768575e-4
allele num: 16420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 62
allele frequency: 9.341569986439656e-4
allele num: 66370
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.520218911523259e-4
allele num: 6578
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.489835e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 4.81e0

FS
type: SiteQuality
SIO_000300: 5.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.815e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.24e-1

QD
type: SiteQuality
SIO_000300: 1.358e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000587568
gene symbol: TTN-AS1
hgvsc: ENST00000587568.1:n.343-2482A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000467141
ensembl transcript: ENST00000589042
gene symbol: TTN
hgvsc: ENST00000589042.1:c.106919T>G
hgvsp: ENSP00000467141.1:p.Leu35640Arg
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000604571
gene symbol: TTN-AS1
hgvsc: ENST00000604571.1:n.321-2482A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+5196A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591867
gene symbol: TTN-AS1
hgvsc: ENST00000591867.1:n.74+19A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592836
gene symbol: TTN-AS1
hgvsc: ENST00000592836.1:n.74+19A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.491+349A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+5196A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.435+19A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.74+19A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.345+5196A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.345+5196A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+19A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5196A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.422+5196A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.345+5196A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+5196A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.219+5196A>C
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 75
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3022
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 134
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 378
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33733
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 21615
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 426
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 322
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 87
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4281
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 52193
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 166
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21758188238159e-4
allele num: 16426
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.062e0

QD
type: SiteQuality
SIO_000300: 1.402e1

VQSLOD
type: SiteQuality
SIO_000300: -1.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.28e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

DP
type: SiteQuality
SIO_000300: 1.487585e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591867
gene symbol: TTN-AS1
hgvsc: ENST00000591867.1:n.74+24C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.74+24C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.422+5201C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000465570
ensembl transcript: ENST00000591111
gene symbol: TTN
hgvsc: ENST00000591111.1:c.101991G>C
hgvsp: ENSP00000465570.1:p.Trp33997Cys
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.345+5201C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000604571
gene symbol: TTN-AS1
hgvsc: ENST00000604571.1:n.321-2477C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+24C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000587944
gene symbol: TTN-AS1
hgvsc: ENST00000587944.1:n.227C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.345+5201C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5201C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591466
gene symbol: TTN-AS1
hgvsc: ENST00000591466.1:n.74+24C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.74+24C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.471-2477C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.74+24C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.345+5201C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
hgvsc: ENST00000589842.1:n.74+24C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.491+354C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.74+24C>G
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 361
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 283
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 137
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 21739
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 334
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3079
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33732
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 86
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 375
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4290
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52381
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505389293671343e-5
allele num: 66428
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16436
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.769e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.75e0

MQRankSum
type: SiteQuality
SIO_000300: 2.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.813e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.35e-1

DP
type: SiteQuality
SIO_000300: 1.490241e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

QD
type: SiteQuality
SIO_000300: 1.148e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.422+5204T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000340554
ensembl transcript: ENST00000342175
gene symbol: TTN
hgvsc: ENST00000342175.6:c.80292A>G
hgvsp: ENST00000342175.6:c.80292A>G(p.%3D)
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.74+27T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5204T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591867
gene symbol: TTN-AS1
hgvsc: ENST00000591867.1:n.74+27T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.435+27T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.74+27T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+5204T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.345+5204T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.560+27T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.74+27T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+27T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
hgvsc: ENST00000589842.1:n.74+27T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.345+5204T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+5204T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.491+357T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.219+5204T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000587568
gene symbol: TTN-AS1
hgvsc: ENST00000587568.1:n.343-2474T>C
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 143
bin: 4.25e1
variant carriers: 5

GenotypeDepth
all individuals: 79
bin: 4.75e1
variant carriers: 3

GenotypeDepth
all individuals: 377
bin: 3.75e1
variant carriers: 3

GenotypeDepth
all individuals: 33709
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 328
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 336
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3051
bin: 3.25e1
variant carriers: 5

GenotypeDepth
all individuals: 22
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 15
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 21818
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 31
bin: 5.25e1
variant carriers: 2

GenotypeDepth
all individuals: 266
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 107
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 131
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52473
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 71
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 467
bin: 9.75e1
variant carriers: 27

GenotypeQuality
all individuals: 138
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 150
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 412
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 871
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4310
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 7.5e0
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.553734061930783e-4
allele num: 6588
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 24
allele frequency: 3.611738148984199e-4
allele num: 66450
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.18e0

FS
type: SiteQuality
SIO_000300: 1.146e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

DP
type: SiteQuality
SIO_000300: 1.491698e6

QD
type: SiteQuality
SIO_000300: 1.403e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.26e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000604571
gene symbol: TTN-AS1
hgvsc: ENST00000604571.1:n.321-2469C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.345+5209C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.219+5209C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.74+32C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.345+5209C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591466
gene symbol: TTN-AS1
hgvsc: ENST00000591466.1:n.74+32C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+5209C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000587944
gene symbol: TTN-AS1
hgvsc: ENST00000587944.1:n.235C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.74+32C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000587568
gene symbol: TTN-AS1
hgvsc: ENST00000587568.1:n.343-2469C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.560+32C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5209C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+32C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.74+32C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585451
gene symbol: TTN-AS1
hgvsc: ENST00000585451.1:n.198+5209C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+5209C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.74+32C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.422+5209C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+32C>T
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 238
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 376
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 300
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 21939
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 336
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33633
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3074
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 252
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52389
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 69
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 855
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4308
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.076072426783327e-5
allele num: 16458
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.54e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.922e0

FS
type: SiteQuality
SIO_000300: 1.068e0

MQRankSum
type: SiteQuality
SIO_000300: -7.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

QD
type: SiteQuality
SIO_000300: 1.473e1

DP
type: SiteQuality
SIO_000300: 1.492812e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.345+5227T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5227T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.491+380T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591867
gene symbol: TTN-AS1
hgvsc: ENST00000591867.1:n.74+50T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000587944
gene symbol: TTN-AS1
hgvsc: ENST00000587944.1:n.253T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.422+5227T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585451
gene symbol: TTN-AS1
hgvsc: ENST00000585451.1:n.198+5227T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590807
gene symbol: TTN-AS1
hgvsc: ENST00000590807.1:n.74+50T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.471-2451T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.74+50T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.435+50T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591466
gene symbol: TTN-AS1
hgvsc: ENST00000591466.1:n.74+50T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
hgvsc: ENST00000589842.1:n.74+50T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.74+50T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+5227T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592750
gene symbol: TTN-AS1
hgvsc: ENST00000592750.1:n.345+5227T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+50T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+5227T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+50T>C
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 3078
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22296
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33637
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 370
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 163
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 191
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 135
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 82
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52997
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4360
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 859
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 246
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.65e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 1.479e1

FS
type: SiteQuality
SIO_000300: 1.046e0

MQRankSum
type: SiteQuality
SIO_000300: 9.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

DP
type: SiteQuality
SIO_000300: 1.497535e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.34e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.9e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.345+5229T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590807
gene symbol: TTN-AS1
hgvsc: ENST00000590807.1:n.74+52T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+52T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.74+52T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592836
gene symbol: TTN-AS1
hgvsc: ENST00000592836.1:n.74+52T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000604571
gene symbol: TTN-AS1
hgvsc: ENST00000604571.1:n.321-2449T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+5229T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.422+5229T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.435+52T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+5229T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5229T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.74+52T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591466
gene symbol: TTN-AS1
hgvsc: ENST00000591466.1:n.74+52T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.345+5229T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+5229T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.74+52T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.345+5229T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.560+52T>C
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 3089
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 22
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 163
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 375
bin: 3.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 159
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22301
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33637
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 135
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53032
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 85
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 245
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4356
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502358703163967e-5
allele num: 66562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.23e-1

FS
type: SiteQuality
SIO_000300: 2.106e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.44e0

DP
type: SiteQuality
SIO_000300: 1.497885e6

QD
type: SiteQuality
SIO_000300: 1.291e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.64e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000434586
ensembl transcript: ENST00000460472
gene symbol: TTN
hgvsc: ENST00000460472.2:c.79688C>G
hgvsp: ENSP00000434586.1:p.Ala26563Gly
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.74+55G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.74+55G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5232G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.422+5232G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+5232G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+55G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.345+5232G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.491+385G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.74+55G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.74+55G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
hgvsc: ENST00000589842.1:n.74+55G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+5232G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+5232G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592689
gene symbol: TTN-AS1
hgvsc: ENST00000592689.1:n.74+55G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.219+5232G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000587944
gene symbol: TTN-AS1
hgvsc: ENST00000587944.1:n.258G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000604571
gene symbol: TTN-AS1
hgvsc: ENST00000604571.1:n.321-2446G>C
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 63
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3102
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 135
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22323
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 154
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 20
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 33646
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 376
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 76
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4345
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 53080
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 601
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.009254251547383e-5
allele num: 66564
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
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: 900
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.008e0

DP
type: SiteQuality
SIO_000300: 1.498713e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.2e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

QD
type: SiteQuality
SIO_000300: 1.482e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+5239A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.560+62A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.74+62A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000587944
gene symbol: TTN-AS1
hgvsc: ENST00000587944.1:n.265A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.491+392A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.74+62A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+5239A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592836
gene symbol: TTN-AS1
hgvsc: ENST00000592836.1:n.74+62A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5239A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+5239A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.422+5239A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.74+62A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.74+62A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.471-2439A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.345+5239A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+62A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591466
gene symbol: TTN-AS1
hgvsc: ENST00000591466.1:n.74+62A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+62A>C
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 20
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 3095
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 372
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33647
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 134
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 135
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22400
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 64
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 16
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 9.75e1
variant carriers: 4

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53223
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 853
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4360
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 182
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 444
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 62
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

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

African
type: Population
allele count: 4
allele frequency: 4.083299305839118e-4
allele num: 9796
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501681883709755e-5
allele num: 66592
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.499997e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

FS
type: SiteQuality
SIO_000300: 5.24e-1

QD
type: SiteQuality
SIO_000300: 1.434e1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591466
gene symbol: TTN-AS1
hgvsc: ENST00000591466.1:n.74+70C>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.422+5247C>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000434586
ensembl transcript: ENST00000460472
gene symbol: TTN
hgvsc: ENST00000460472.2:c.79673G>T
hgvsp: ENSP00000434586.1:p.Arg26558Ile
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.74+70C>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591867
gene symbol: TTN-AS1
hgvsc: ENST00000591867.1:n.74+70C>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.74+70C>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.219+5247C>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
hgvsc: ENST00000589842.1:n.74+70C>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.471-2431C>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+70C>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.435+70C>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5247C>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+70C>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590807
gene symbol: TTN-AS1
hgvsc: ENST00000590807.1:n.74+70C>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+5247C>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.491+400C>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+5247C>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592689
gene symbol: TTN-AS1
hgvsc: ENST00000592689.1:n.74+70C>A
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 124
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3100
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 373
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22466
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 107
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 33635
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 439
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 53
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4370
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53254
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66602
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.322340919647004e-4
allele num: 8612
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.500123e6

MQRankSum
type: SiteQuality
SIO_000300: 5.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 1.715e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.87e0

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

QD
type: SiteQuality
SIO_000300: 1.345e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.422+5251G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.345+5251G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+5251G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.74+74G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592750
gene symbol: TTN-AS1
hgvsc: ENST00000592750.1:n.345+5251G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.74+74G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5251G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585358
gene symbol: TTN-AS1
hgvsc: ENST00000585358.1:n.74+74G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.345+5251G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.560+74G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585451
gene symbol: TTN-AS1
hgvsc: ENST00000585451.1:n.198+5251G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.74+74G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.471-2427G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585625
gene symbol: TTN-AS1
hgvsc: ENST00000585625.1:n.681-2427G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+74G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+5251G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.491+404G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000604571
gene symbol: TTN-AS1
hgvsc: ENST00000604571.1:n.321-2427G>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.74+74G>C
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 118
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22483
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 91
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 134
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 372
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33640
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3107
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53329
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4360
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 50
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501185936890143e-5
allele num: 66614
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.53e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.723e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.333e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

QD
type: SiteQuality
SIO_000300: 1.211e1

DP
type: SiteQuality
SIO_000300: 1.500487e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: frameshift_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000352154
ensembl transcript: ENST00000359218
gene symbol: TTN
hgvsp: ENSP00000352154.5:p.Ser26677LysfsTer7
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592689
gene symbol: TTN-AS1
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000587568
gene symbol: TTN-AS1
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: frameshift_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000465570
ensembl transcript: ENST00000591111
gene symbol: TTN
hgvsp: ENSP00000465570.1:p.Ser33976LysfsTer7
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585358
gene symbol: TTN-AS1
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585451
gene symbol: TTN-AS1
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 370
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 83
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33637
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22512
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3109
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 47
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4375
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 155
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53356
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 3.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

MQ
type: SiteQuality
SIO_000300: 5.438e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.19e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.727e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.28e-1

DP
type: SiteQuality
SIO_000300: 1.500776e6

VQSLOD
type: SiteQuality
SIO_000300: 6.6e-2

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+5257C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000434586
ensembl transcript: ENST00000460472
gene symbol: TTN
hgvsc: ENST00000460472.2:c.79663G>A
hgvsp: ENSP00000434586.1:p.Glu26555Lys
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.471-2421C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.219+5257C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
hgvsc: ENST00000589842.1:n.74+80C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.345+5257C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.74+80C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.74+80C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+80C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.491+410C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590807
gene symbol: TTN-AS1
hgvsc: ENST00000590807.1:n.74+80C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+5257C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585625
gene symbol: TTN-AS1
hgvsc: ENST00000585625.1:n.681-2421C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000604571
gene symbol: TTN-AS1
hgvsc: ENST00000604571.1:n.321-2421C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5257C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.74+80C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.422+5257C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+5257C>T
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 371
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 83
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22518
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3114
bin: 3.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 114
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33624
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 19
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 133
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 606
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4364
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53340
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 441
bin: 9.75e1
variant carriers: 4

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002462018855461e-5
allele num: 66612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.020616452337212e-4
allele num: 9798
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.652e0

QD
type: SiteQuality
SIO_000300: 1.307e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.043e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQRankSum
type: SiteQuality
SIO_000300: -5.11e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.501251e6

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

Annotation
canonical: false
clinical significance: benign
consequence: synonymous_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000352154
ensembl transcript: ENST00000359218
gene symbol: TTN
hgvsc: ENST00000359218.5:c.80037C>T
hgvsp: ENST00000359218.5:c.80037C>T(p.%3D)
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
clinical significance: benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5258G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591466
gene symbol: TTN-AS1
hgvsc: ENST00000591466.1:n.74+81G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.345+5258G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+81G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591867
gene symbol: TTN-AS1
hgvsc: ENST00000591867.1:n.74+81G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: benign
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000587944
gene symbol: TTN-AS1
hgvsc: ENST00000587944.1:n.284G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.345+5258G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.491+411G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.345+5258G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585358
gene symbol: TTN-AS1
hgvsc: ENST00000585358.1:n.74+81G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.74+81G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.74+81G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.74+81G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+5258G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.435+81G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+81G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+5258G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000587568
gene symbol: TTN-AS1
hgvsc: ENST00000587568.1:n.343-2420G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.422+5258G>A
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 82
bin: 4.75e1
variant carriers: 9

GenotypeDepth
all individuals: 24
bin: 6.25e1
variant carriers: 5

GenotypeDepth
all individuals: 3099
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 33605
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 22497
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 373
bin: 3.75e1
variant carriers: 4

GenotypeDepth
all individuals: 112
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 21
bin: 7.75e1
variant carriers: 5

GenotypeDepth
all individuals: 79
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 9.25e1
variant carriers: 4

GenotypeDepth
all individuals: 23
bin: 8.25e1
variant carriers: 4

GenotypeDepth
all individuals: 20
bin: 7.25e1
variant carriers: 3

GenotypeDepth
all individuals: 133
bin: 4.25e1
variant carriers: 4

GenotypeDepth
all individuals: 26
bin: 6.75e1
variant carriers: 5

GenotypeDepth
all individuals: 77
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 5.75e1
variant carriers: 5

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 9.75e1
variant carriers: 26

GenotypeDepth
all individuals: 36
bin: 5.25e1
variant carriers: 7

GenotypeQuality
all individuals: 37
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 78
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4350
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 599
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 244
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 38
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53350
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 9.75e1
variant carriers: 84

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

Latino
type: Population
allele count: 4
allele frequency: 3.472825143254037e-4
allele num: 11518
num of homozygotes: 0

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

African
type: Population
allele count: 79
allele frequency: 8.062869973463973e-3
allele num: 9798
num of homozygotes: 1

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002371873780286e-5
allele num: 66614
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.374e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.9e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.45e-1

DP
type: SiteQuality
SIO_000300: 1.506284e6

FS
type: SiteQuality
SIO_000300: 0.0e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591466
gene symbol: TTN-AS1
hgvsc: ENST00000591466.1:n.74+87G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590807
gene symbol: TTN-AS1
hgvsc: ENST00000590807.1:n.74+87G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5264G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591867
gene symbol: TTN-AS1
hgvsc: ENST00000591867.1:n.74+87G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+87G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.345+5264G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000604571
gene symbol: TTN-AS1
hgvsc: ENST00000604571.1:n.321-2414G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.491+417G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592836
gene symbol: TTN-AS1
hgvsc: ENST00000592836.1:n.74+87G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.345+5264G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.74+87G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+5264G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585358
gene symbol: TTN-AS1
hgvsc: ENST00000585358.1:n.74+87G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.560+87G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.345+5264G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000587568
gene symbol: TTN-AS1
hgvsc: ENST00000587568.1:n.343-2414G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.435+87G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.219+5264G>A
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 69
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 102
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22544
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 366
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33643
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3124
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 21
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 602
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 72
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4362
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 53445
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160900859066636e-4
allele num: 8614
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.001e-1

QD
type: SiteQuality
SIO_000300: 1.02e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.50099e6

FS
type: SiteQuality
SIO_000300: 1.291e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.899e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.59e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+5278A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.74+101A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000434586
ensembl transcript: ENST00000460472
gene symbol: TTN
hgvsc: ENST00000460472.2:c.79642T>G
hgvsp: ENSP00000434586.1:p.Ser26548Ala
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000343764
ensembl transcript: ENST00000342992
gene symbol: TTN
hgvsc: ENST00000342992.6:c.99133T>G
hgvsp: ENSP00000343764.6:p.Ser33045Ala
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.74+101A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585358
gene symbol: TTN-AS1
hgvsc: ENST00000585358.1:n.74+101A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.74+101A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.491+431A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5278A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.345+5278A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592750
gene symbol: TTN-AS1
hgvsc: ENST00000592750.1:n.345+5278A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000604571
gene symbol: TTN-AS1
hgvsc: ENST00000604571.1:n.321-2400A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.471-2400A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592836
gene symbol: TTN-AS1
hgvsc: ENST00000592836.1:n.74+101A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+5278A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.422+5278A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.74+101A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
clinical significance: uncertain_significance
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000467141
ensembl transcript: ENST00000589042
gene symbol: TTN
hgvsc: ENST00000589042.1:c.106837T>G
hgvsp: ENSP00000467141.1:p.Ser35613Ala
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
hgvsc: ENST00000589842.1:n.74+101A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.560+101A>C
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 368
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 50
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 22584
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 18
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3114
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33636
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 19
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4357
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 9.75e1
variant carriers: 6

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

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 245
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 73
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53490
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 840
bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.505253677574302e-5
allele num: 66620
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.020616452337212e-4
allele num: 9798
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 1.813e0

DP
type: SiteQuality
SIO_000300: 1.502031e6

QD
type: SiteQuality
SIO_000300: 1.411e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

Annotation
canonical: true
clinical significance: uncertain_significance
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000467141
ensembl transcript: ENST00000589042
gene symbol: TTN
hgvsc: ENST00000589042.1:c.106837T>C
hgvsp: ENSP00000467141.1:p.Ser35613Pro
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585451
gene symbol: TTN-AS1
hgvsc: ENST00000585451.1:n.198+5278A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+5278A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.491+431A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.345+5278A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.422+5278A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000434586
ensembl transcript: ENST00000460472
gene symbol: TTN
hgvsc: ENST00000460472.2:c.79642T>C
hgvsp: ENSP00000434586.1:p.Ser26548Pro
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.345+5278A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592689
gene symbol: TTN-AS1
hgvsc: ENST00000592689.1:n.74+101A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5278A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.74+101A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+101A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.219+5278A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.74+101A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.345+5278A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.74+101A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591466
gene symbol: TTN-AS1
hgvsc: ENST00000591466.1:n.74+101A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.560+101A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+101A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.435+101A>G
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 50
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33636
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3114
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 368
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22584
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 19
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.75e1
variant carriers: 1

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

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

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

GenotypeQuality
all individuals: 79
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4357
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53490
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 840
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002101471029721e-5
allele num: 66620
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.502031e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

FS
type: SiteQuality
SIO_000300: 1.813e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.13e0

MQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

QD
type: SiteQuality
SIO_000300: 1.411e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592836
gene symbol: TTN-AS1
hgvsc: ENST00000592836.1:n.74+103A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.219+5280A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.345+5280A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.74+103A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.74+103A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.435+103A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000604571
gene symbol: TTN-AS1
hgvsc: ENST00000604571.1:n.321-2398A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585451
gene symbol: TTN-AS1
hgvsc: ENST00000585451.1:n.198+5280A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.422+5280A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+103A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5280A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000587568
gene symbol: TTN-AS1
hgvsc: ENST00000587568.1:n.343-2398A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
hgvsc: ENST00000589842.1:n.74+103A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.345+5280A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592689
gene symbol: TTN-AS1
hgvsc: ENST00000592689.1:n.74+103A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.471-2398A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+103A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.74+103A>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+5280A>G
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 44
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22587
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 367
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33646
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 58
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3113
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4356
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 7.5e0
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 53520
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.020616452337212e-4
allele num: 9798
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66628
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.639e0

VQSLOD
type: SiteQuality
SIO_000300: 8.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.421e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

DP
type: SiteQuality
SIO_000300: 1.501485e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.03e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+110T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.74+110T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000343764
ensembl transcript: ENST00000342992
gene symbol: TTN
hgvsc: ENST00000342992.6:c.99124A>G
hgvsp: ENSP00000343764.6:p.Lys33042Glu
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+5287T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000604571
gene symbol: TTN-AS1
hgvsc: ENST00000604571.1:n.321-2391T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5287T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591867
gene symbol: TTN-AS1
hgvsc: ENST00000591867.1:n.74+110T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.435+110T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591466
gene symbol: TTN-AS1
hgvsc: ENST00000591466.1:n.74+110T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.560+110T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585358
gene symbol: TTN-AS1
hgvsc: ENST00000585358.1:n.74+110T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.422+5287T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.74+110T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592836
gene symbol: TTN-AS1
hgvsc: ENST00000592836.1:n.74+110T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.491+440T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.74+110T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+110T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592750
gene symbol: TTN-AS1
hgvsc: ENST00000592750.1:n.345+5287T>C
variant of: http://identifiers.org/hgnc/44124

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

GenotypeDepth
all individuals: 16
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 86
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3112
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 33658
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 368
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 101
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22596
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 133
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53538
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 77
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 9.75e1
variant carriers: 1

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

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

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

GenotypeQuality
all individuals: 103
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4356
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.566e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

QD
type: SiteQuality
SIO_000300: 1.538e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.501703e6

VQSLOD
type: SiteQuality
SIO_000300: -1.037e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000467141
ensembl transcript: ENST00000589042
gene symbol: TTN
hgvsc: ENST00000589042.1:c.106827T>G
hgvsp: ENSP00000467141.1:p.Ile35609Met
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.435+111A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000604571
gene symbol: TTN-AS1
hgvsc: ENST00000604571.1:n.321-2390A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.560+111A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.345+5288A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585625
gene symbol: TTN-AS1
hgvsc: ENST00000585625.1:n.681-2390A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000343764
ensembl transcript: ENST00000342992
gene symbol: TTN
hgvsc: ENST00000342992.6:c.99123T>G
hgvsp: ENSP00000343764.6:p.Ile33041Met
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.74+111A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.422+5288A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000587568
gene symbol: TTN-AS1
hgvsc: ENST00000587568.1:n.343-2390A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+111A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.74+111A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.219+5288A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5288A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.345+5288A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+5288A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
hgvsc: ENST00000589842.1:n.74+111A>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592750
gene symbol: TTN-AS1
hgvsc: ENST00000592750.1:n.345+5288A>C
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 76
bin: 4.75e1
variant carriers: 3

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

GenotypeDepth
all individuals: 23
bin: 5.75e1
variant carriers: 5

GenotypeDepth
all individuals: 33636
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 8.75e1
variant carriers: 3

GenotypeDepth
all individuals: 83
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 370
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 23
bin: 6.75e1
variant carriers: 3

GenotypeDepth
all individuals: 3111
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 49
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 18
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 21
bin: 8.25e1
variant carriers: 2

GenotypeDepth
all individuals: 22594
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.75e1
variant carriers: 2

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

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

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53518
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4354
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 842
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 9.75e1
variant carriers: 24

GenotypeQuality
all individuals: 247
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 598
bin: 7.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 23
allele frequency: 1.995142262317835e-3
allele num: 11528
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500780405811022e-5
allele num: 66632
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.393e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.91e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.63e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.5028e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.05e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585358
gene symbol: TTN-AS1
hgvsc: ENST00000585358.1:n.74+113T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592600
gene symbol: TTN-AS1
hgvsc: ENST00000592600.1:n.345+5290T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.345+5290T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592689
gene symbol: TTN-AS1
hgvsc: ENST00000592689.1:n.74+113T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.74+113T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591466
gene symbol: TTN-AS1
hgvsc: ENST00000591466.1:n.74+113T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592750
gene symbol: TTN-AS1
hgvsc: ENST00000592750.1:n.345+5290T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.435+113T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590807
gene symbol: TTN-AS1
hgvsc: ENST00000590807.1:n.74+113T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.560+113T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.491+443T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5290T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.74+113T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.74+113T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.422+5290T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.345+5290T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.74+113T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000604571
gene symbol: TTN-AS1
hgvsc: ENST00000604571.1:n.321-2388T>C
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.74+113T>C
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33637
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 370
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 48
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22618
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3109
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4353
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 846
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 53546
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 73
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 76
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 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: 898
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.321e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.931e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

DP
type: SiteQuality
SIO_000300: 1.501828e6

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.41e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000352154
ensembl transcript: ENST00000359218
gene symbol: TTN
hgvsc: ENST00000359218.5:c.80002G>A
hgvsp: ENSP00000352154.5:p.Glu26668Lys
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.422+5293C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591867
gene symbol: TTN-AS1
hgvsc: ENST00000591867.1:n.74+116C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
hgvsc: ENST00000589842.1:n.74+116C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592750
gene symbol: TTN-AS1
hgvsc: ENST00000592750.1:n.345+5293C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.345+5293C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.74+116C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000450692
gene symbol: TTN-AS1
hgvsc: ENST00000450692.2:n.74+116C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592689
gene symbol: TTN-AS1
hgvsc: ENST00000592689.1:n.74+116C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591466
gene symbol: TTN-AS1
hgvsc: ENST00000591466.1:n.74+116C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+5293C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5293C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.74+116C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585358
gene symbol: TTN-AS1
hgvsc: ENST00000585358.1:n.74+116C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.219+5293C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+116C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.74+116C>T
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.560+116C>T
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 3108
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33638
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22621
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 374
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 597
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4354
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 843
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53543
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 92
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 76
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50073536032656e-5
allele num: 66634
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.501942e6

VQSLOD
type: SiteQuality
SIO_000300: -9.644e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.463e0

FS
type: SiteQuality
SIO_000300: 3.417e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.473e0

QD
type: SiteQuality
SIO_000300: 1.259e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.53e-1

MQ
type: SiteQuality
SIO_000300: 5.908e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.66e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590807
gene symbol: TTN-AS1
hgvsc: ENST00000590807.1:n.74+118G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.491+448G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592689
gene symbol: TTN-AS1
hgvsc: ENST00000592689.1:n.74+118G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585451
gene symbol: TTN-AS1
hgvsc: ENST00000585451.1:n.198+5295G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.74+118G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000604571
gene symbol: TTN-AS1
hgvsc: ENST00000604571.1:n.321-2383G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+5295G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.560+118G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591466
gene symbol: TTN-AS1
hgvsc: ENST00000591466.1:n.74+118G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585358
gene symbol: TTN-AS1
hgvsc: ENST00000585358.1:n.74+118G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.74+118G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.74+118G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.74+118G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000587568
gene symbol: TTN-AS1
hgvsc: ENST00000587568.1:n.343-2383G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+118G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.345+5295G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.345+5295G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585625
gene symbol: TTN-AS1
hgvsc: ENST00000585625.1:n.681-2383G>A
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 77
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 22614
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33631
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3108
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 20
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 16
bin: 8.75e1
variant carriers: 2

GenotypeDepth
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 19
bin: 7.25e1
variant carriers: 2

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 373
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 9.75e1
variant carriers: 5

GenotypeDepth
all individuals: 18
bin: 5.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 17
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 74
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 21
bin: 8.25e1
variant carriers: 2

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4349
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 53540
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 446
bin: 9.75e1
variant carriers: 19

GenotypeQuality
all individuals: 92
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
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: 898
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.551250112555152e-4
allele num: 66634
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.041232904674423e-4
allele num: 9798
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.56e-1

DP
type: SiteQuality
SIO_000300: 1.503266e6

QD
type: SiteQuality
SIO_000300: 1.269e1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.707e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.96e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.0e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000604571
gene symbol: TTN-AS1
hgvsc: ENST00000604571.1:n.321-2365_321-2363delTCT
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585625
gene symbol: TTN-AS1
hgvsc: ENST00000585625.1:n.681-2365_681-2363delTCT
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588244
gene symbol: TTN-AS1
hgvsc: ENST00000588244.1:n.74+136_74+138delTCT
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.74+136_74+138delTCT
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000587568
gene symbol: TTN-AS1
hgvsc: ENST00000587568.1:n.343-2365_343-2363delTCT
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+136_74+138delTCT
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+5313_345+5315delTCT
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.345+5313_345+5315delTCT
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.345+5313_345+5315delTCT
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.491+466_491+468delTCT
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585358
gene symbol: TTN-AS1
hgvsc: ENST00000585358.1:n.74+136_74+138delTCT
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.471-2365_471-2363delTCT
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+136_74+138delTCT
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.74+136_74+138delTCT
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.219+5313_219+5315delTCT
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591466
gene symbol: TTN-AS1
hgvsc: ENST00000591466.1:n.74+136_74+138delTCT
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588804
gene symbol: TTN-AS1
hgvsc: ENST00000588804.1:n.435+136_435+138delTCT
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+5313_413+5315delTCT
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.345+5313_345+5315delTCT
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 72
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 373
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3111
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33615
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22648
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 76
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53550
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4356
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 846
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.5024e6

FS
type: SiteQuality
SIO_000300: 7.412e0

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

QD
type: SiteQuality
SIO_000300: 1.387e1

MQ
type: SiteQuality
SIO_000300: 5.889e1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.49e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592836
gene symbol: TTN-AS1
hgvsc: ENST00000592836.1:n.74+143C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591466
gene symbol: TTN-AS1
hgvsc: ENST00000591466.1:n.74+143C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+5320C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585625
gene symbol: TTN-AS1
hgvsc: ENST00000585625.1:n.681-2358C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590807
gene symbol: TTN-AS1
hgvsc: ENST00000590807.1:n.74+143C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000604571
gene symbol: TTN-AS1
hgvsc: ENST00000604571.1:n.321-2358C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.345+5320C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589391
gene symbol: TTN-AS1
hgvsc: ENST00000589391.1:n.74+143C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.422+5320C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.345+5320C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592689
gene symbol: TTN-AS1
hgvsc: ENST00000592689.1:n.74+143C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000431259
gene symbol: TTN-AS1
hgvsc: ENST00000431259.2:n.560+143C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592630
gene symbol: TTN-AS1
hgvsc: ENST00000592630.1:n.345+5320C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588716
gene symbol: TTN-AS1
hgvsc: ENST00000588716.1:n.74+143C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+143C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.471-2358C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
hgvsc: ENST00000589842.1:n.74+143C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.345+5320C>G
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.74+143C>G
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22656
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3117
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 73
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33589
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 16
bin: 8.75e1
variant carriers: 2

GenotypeDepth
all individuals: 47
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 16
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 375
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 76
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 247
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 4356
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53538
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.002400960384154e-5
allele num: 66640
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 1.502416e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.78e-1

QD
type: SiteQuality
SIO_000300: 1.138e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 8.24e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: stop_gained
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000434586
ensembl transcript: ENST00000460472
gene symbol: TTN
hgvsc: ENST00000460472.2:c.79597C>T
hgvsp: ENSP00000434586.1:p.Gln26533Ter
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: stop_gained
ensembl gene: ENSG00000155657
ensembl protein: ENSP00000343764
ensembl transcript: ENST00000342992
gene symbol: TTN
hgvsc: ENST00000342992.6:c.99088C>T
hgvsp: ENSP00000343764.6:p.Gln33030Ter
variant of: http://identifiers.org/hgnc/12403

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589434
gene symbol: TTN-AS1
hgvsc: ENST00000589434.1:n.422+5323G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591466
gene symbol: TTN-AS1
hgvsc: ENST00000591466.1:n.74+146G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592182
gene symbol: TTN-AS1
hgvsc: ENST00000592182.1:n.491+476G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000585487
gene symbol: TTN-AS1
hgvsc: ENST00000585487.1:n.345+5323G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591332
gene symbol: TTN-AS1
hgvsc: ENST00000591332.1:n.345+5323G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000442329
gene symbol: TTN-AS1
hgvsc: ENST00000442329.2:n.471-2355G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000456053
gene symbol: TTN-AS1
hgvsc: ENST00000456053.1:n.413+5323G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586452
gene symbol: TTN-AS1
hgvsc: ENST00000586452.1:n.74+146G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000590040
gene symbol: TTN-AS1
hgvsc: ENST00000590040.1:n.345+5323G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586831
gene symbol: TTN-AS1
hgvsc: ENST00000586831.1:n.74+146G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000591867
gene symbol: TTN-AS1
hgvsc: ENST00000591867.1:n.74+146G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000586707
gene symbol: TTN-AS1
hgvsc: ENST00000586707.1:n.345+5323G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000589842
gene symbol: TTN-AS1
hgvsc: ENST00000589842.1:n.74+146G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000588257
gene symbol: TTN-AS1
hgvsc: ENST00000588257.1:n.74+146G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000592689
gene symbol: TTN-AS1
hgvsc: ENST00000592689.1:n.74+146G>A
variant of: http://identifiers.org/hgnc/44124

Annotation
canonical: true
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000237298
ensembl transcript: ENST00000419746
gene symbol: TTN-AS1
hgvsc: ENST00000419746.1:n.219+5323G>A
variant of: http://identifiers.org/hgnc/44124

GenotypeDepth
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 377
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3113
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 2.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 33581
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22657
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 19
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 851
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 76
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4351
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 98
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53535
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0