6-127637680-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127637680
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127637680
    reference: chr 6
allele count: 1
allele frequency: 8.346966712296751e-6
allele num: 119804
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.139-1639T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.364-1397T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.139-33T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*173-33T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.364-33T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.364-33T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.364-33T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.368-1639T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.364-1639T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.236-33T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.364-33T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.364-33T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000432265
  ensembl transcript: ENST00000460558
  gene symbol: ECHDC1
  hgvsc: ENST00000460558.1:c.12-561T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.364-1639T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.364-33T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.364-1637T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.137-33T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.443-33T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.382-33T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.364-33T>C
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

6-127637681-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127637681
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127637681
    reference: chr 6
allele count: 1
allele frequency: 8.347384764353328e-6
allele num: 119798
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.443-34A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.364-34A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.139-1640A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.368-1640A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.364-1640A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.364-34A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.364-1638A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.364-34A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.364-34A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.364-1640A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.236-34A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.382-34A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.364-34A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.137-34A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000432265
  ensembl transcript: ENST00000460558
  gene symbol: ECHDC1
  hgvsc: ENST00000460558.1:c.12-562A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.364-34A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.364-1398A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.364-34A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.139-34A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*173-34A>G
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/6-127637686-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127637686
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127637686
    reference: chr 6
allele count: 1
allele frequency: 8.364001338240215e-6
allele num: 119560
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.364-39G>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.139-39G>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.137-39G>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.382-39G>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.364-1643G>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.364-1645G>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.364-39G>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*173-39G>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.364-39G>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.364-39G>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.364-39G>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.139-1645G>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.364-39G>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.236-39G>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.443-39G>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.364-39G>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000432265
  ensembl transcript: ENST00000460558
  gene symbol: ECHDC1
  hgvsc: ENST00000460558.1:c.12-567G>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.368-1645G>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.364-1645G>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.364-1403G>T
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

6-127637692-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127637692
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127637692
    reference: chr 6
allele count: 1796
allele frequency: 1.509548144163529e-2
allele num: 118976
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.368-1651A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.364-45A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.364-1651A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.364-45A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*173-45A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000432265
  ensembl transcript: ENST00000460558
  gene symbol: ECHDC1
  hgvsc: ENST00000460558.1:c.12-573A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.137-45A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.382-45A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.364-45A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.364-45A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.364-45A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.139-1651A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.139-45A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.364-1409A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.236-45A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.364-45A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.443-45A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.364-1649A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.364-1651A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.364-45A>G
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 37
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

6-127637696-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127637696
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127637696
    reference: chr 6
allele count: 41
allele frequency: 3.468110302825241e-4
allele num: 118220
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.236-49T>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.364-49T>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.364-1655T>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.364-1413T>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*173-49T>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.364-1655T>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.139-1655T>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.364-49T>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.382-49T>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.364-49T>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.364-49T>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.364-1653T>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.368-1655T>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.443-49T>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.364-49T>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.364-49T>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000432265
  ensembl transcript: ENST00000460558
  gene symbol: ECHDC1
  hgvsc: ENST00000460558.1:c.12-577T>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.139-49T>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.364-49T>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.137-49T>A
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 1
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

6-127647598-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127647598
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127647598
    reference: chr 6
allele count: 6
allele frequency: 4.194630872483221e-4
allele num: 14304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.363+549G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.363+549G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.363+549G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.442+43G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.138+549G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.138+549G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*172+549G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.363+549G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.381+549G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.363+549G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.136+549G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.367+545G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.235+549G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000432265
  ensembl transcript: ENST00000460558
  gene symbol: ECHDC1
  hgvsc: ENST00000460558.1:c.11+549G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.363+549G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.363+549G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.363+549G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.363+548G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.363+549G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.363+43G>C
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

6-127647609-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127647609
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127647609
    reference: chr 6
allele count: 1
allele frequency: 6.94637399277577e-5
allele num: 14396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.138+538T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.363+538T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.363+538T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000432265
  ensembl transcript: ENST00000460558
  gene symbol: ECHDC1
  hgvsc: ENST00000460558.1:c.11+538T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.136+538T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.363+538T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.363+32T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.381+538T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.363+538T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.363+538T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.363+538T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.138+538T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.363+538T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.235+538T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.363+538T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.442+32T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.367+534T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*172+538T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.363+538T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.363+537T>C
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

6-127647612-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127647612
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127647612
    reference: chr 6
allele count: 3
allele frequency: 2.084781097984712e-4
allele num: 14390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.235+535C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.138+535C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*172+535C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.367+531C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.363+535C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.442+29C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000432265
  ensembl transcript: ENST00000460558
  gene symbol: ECHDC1
  hgvsc: ENST00000460558.1:c.11+535C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.363+535C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.363+535C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.136+535C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.363+535C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.138+535C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.363+535C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.363+535C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.363+535C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.363+29C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.363+534C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.363+535C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.363+535C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.381+535C>T
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

6-127647629-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127647629
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127647629
    reference: chr 6
allele count: 1
allele frequency: 6.910850034554251e-5
allele num: 14470
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.363+517T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.363+518T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.138+518T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.363+518T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000432265
  ensembl transcript: ENST00000460558
  gene symbol: ECHDC1
  hgvsc: ENST00000460558.1:c.11+518T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.363+518T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.363+518T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.363+518T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.381+518T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.363+518T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.367+514T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.363+518T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.363+518T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.363+12T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.363+518T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*172+518T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.442+12T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.235+518T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.136+518T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.138+518T>C
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

6-127647649-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127647649
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127647649
    reference: chr 6
allele count: 1
allele frequency: 6.868131868131868e-5
allele num: 14560
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.363+498A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.363+498A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.363+498A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.363+498A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.363+497A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.138+498A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.363+498A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.235+498A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.363+498A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.363+498A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.355A>G
  hgvsp: ENSP00000399233.1:p.Tyr119Cys
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.434A>G
  hgvsp: ENSP00000435068.1:p.Tyr145Cys
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000432265
  ensembl transcript: ENST00000460558
  gene symbol: ECHDC1
  hgvsc: ENST00000460558.1:c.11+498A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.367+494A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.138+498A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.363+498A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.363+498A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.381+498A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*172+498A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.136+498A>G
  variant of: http://identifiers.org/hgnc/21489
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Tyr145Cys
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

6-127647650-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127647650
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127647650
    reference: chr 6
allele count: 1
allele frequency: 6.865302759851709e-5
allele num: 14566
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.363+497T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.138+497T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.138+497T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.136+497T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.433T>C
  hgvsp: ENSP00000435068.1:p.Tyr145His
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.363+497T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.363+497T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*172+497T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.354T>C
  hgvsp: ENSP00000399233.1:p.Tyr119His
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.367+493T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.363+497T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.381+497T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.363+497T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.235+497T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.363+497T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.363+497T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.363+496T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.363+497T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000432265
  ensembl transcript: ENST00000460558
  gene symbol: ECHDC1
  hgvsc: ENST00000460558.1:c.11+497T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.363+497T>C
  variant of: http://identifiers.org/hgnc/21489
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Tyr145His
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

6-127647679-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127647679
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127647679
    reference: chr 6
allele count: 1
allele frequency: 6.848376934666484e-5
allele num: 14602
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.363+467A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.363+468A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.363+468A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.363+468A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.404A>G
  hgvsp: ENSP00000435068.1:p.His135Arg
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.363+468A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*172+468A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.363+468A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.136+468A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.363+468A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.325A>G
  hgvsp: ENSP00000399233.1:p.His109Arg
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.363+468A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.363+468A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000432265
  ensembl transcript: ENST00000460558
  gene symbol: ECHDC1
  hgvsc: ENST00000460558.1:c.11+468A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.138+468A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.138+468A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.367+464A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.235+468A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.381+468A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.363+468A>G
  variant of: http://identifiers.org/hgnc/21489
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His135Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

6-127647680-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127647680
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127647680
    reference: chr 6
allele count: 1
allele frequency: 6.847439057792385e-5
allele num: 14604
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.363+467C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.363+467C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.136+467C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.138+467C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.138+467C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000432265
  ensembl transcript: ENST00000460558
  gene symbol: ECHDC1
  hgvsc: ENST00000460558.1:c.11+467C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.363+467C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.363+466C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.235+467C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.363+467C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.381+467C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.367+463C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.363+467C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.363+467C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.324C>T
  hgvsp: ENSP00000399233.1:p.His109Tyr
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*172+467C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.363+467C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.363+467C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.363+467C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.403C>T
  hgvsp: ENSP00000435068.1:p.His135Tyr
  variant of: http://identifiers.org/hgnc/21489
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His135Tyr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

6-127647693-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127647693
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127647693
    reference: chr 6
allele count: 13
allele frequency: 8.900451869094893e-4
allele num: 14606
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.138+454C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*172+454C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.390C>A
  hgvsp: ENSP00000435068.1:p.Phe130Leu
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.138+454C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.381+454C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.363+454C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000432265
  ensembl transcript: ENST00000460558
  gene symbol: ECHDC1
  hgvsc: ENST00000460558.1:c.11+454C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.363+454C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.311C>A
  hgvsp: ENSP00000399233.1:p.Phe104Leu
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.363+454C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.363+453C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.363+454C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.363+454C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.363+454C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.367+450C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.363+454C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.136+454C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.235+454C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.363+454C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.363+454C>A
  variant of: http://identifiers.org/hgnc/21489
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Phe130Leu
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum

6-127647714-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127647714
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127647714
    reference: chr 6
allele count: 2
allele frequency: 1.374192661811186e-4
allele num: 14554
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.235+433T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.363+433T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*172+433T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.290T>C
  hgvsp: ENST00000436638.1:c.290T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.369T>C
  hgvsp: ENST00000525745.1:c.369T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.363+433T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.363+433T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.136+433T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.363+433T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.363+433T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.381+433T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.367+429T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.138+433T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.363+432T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.363+433T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.363+433T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.138+433T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.363+433T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000432265
  ensembl transcript: ENST00000460558
  gene symbol: ECHDC1
  hgvsc: ENST00000460558.1:c.11+433T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.363+433T>C
  variant of: http://identifiers.org/hgnc/21489
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser123Ser
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

6-127647715-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127647715
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127647715
    reference: chr 6
allele count: 1
allele frequency: 6.87096330905593e-5
allele num: 14554
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.289G>C
  hgvsp: ENSP00000399233.1:p.Ser97Thr
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.363+432G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.363+432G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.138+432G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.136+432G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.138+432G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.363+432G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.363+432G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.363+432G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.367+428G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.363+432G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000432265
  ensembl transcript: ENST00000460558
  gene symbol: ECHDC1
  hgvsc: ENST00000460558.1:c.11+432G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.363+432G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.381+432G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.368G>C
  hgvsp: ENSP00000435068.1:p.Ser123Thr
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.363+432G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*172+432G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.363+432G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.235+432G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.363+431G>C
  variant of: http://identifiers.org/hgnc/21489
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser123Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

6-127647728-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127647728
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127647728
    reference: chr 6
allele count: 46
allele frequency: 3.214984623986581e-3
allele num: 14308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.363+418A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.363+419A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.381+419A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.138+419A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.363+419A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.138+419A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.136+419A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000432265
  ensembl transcript: ENST00000460558
  gene symbol: ECHDC1
  hgvsc: ENST00000460558.1:c.11+419A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.364-9A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.285-9A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.363+419A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.367+415A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.363+419A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.363+419A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.363+419A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.363+419A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.235+419A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*172+419A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.363+419A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.363+419A>T
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

6-127647739-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127647739
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127647739
    reference: chr 6
allele count: 1
allele frequency: 7.328154770628756e-5
allele num: 13646
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.136+408G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.363+408G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.363+408G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.363+408G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.381+408G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.285-20G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.138+408G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.367+404G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.235+408G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.363+407G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.363+408G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*172+408G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.363+408G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.364-20G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.363+408G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000432265
  ensembl transcript: ENST00000460558
  gene symbol: ECHDC1
  hgvsc: ENST00000460558.1:c.11+408G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.138+408G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.363+408G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.363+408G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.363+408G>C
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

6-127647741-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127647741
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127647741
    reference: chr 6
allele count: 1
allele frequency: 7.431629013079666e-5
allele num: 13456
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.363+406T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.364-22T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.363+406T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.363+405T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.381+406T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.138+406T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.138+406T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.136+406T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.363+406T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.367+402T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.363+406T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*172+406T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.285-22T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.363+406T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.363+406T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.235+406T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.363+406T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000432265
  ensembl transcript: ENST00000460558
  gene symbol: ECHDC1
  hgvsc: ENST00000460558.1:c.11+406T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.363+406T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.363+406T>C
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

6-127647752-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127647752
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127647751
    reference: chr 6
allele count: 4
allele frequency: 3.068896731624981e-4
allele num: 13034
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.136+394delT
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000432265
  ensembl transcript: ENST00000460558
  gene symbol: ECHDC1
  hgvsc: ENST00000460558.1:c.11+394delT
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.363+394delT
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.363+394delT
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.363+394delT
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.363+394delT
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.138+394delT
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.363+394delT
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.364-34delT
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.363+394delT
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.367+390delT
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.235+394delT
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*172+394delT
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.285-34delT
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.363+394delT
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.138+394delT
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.363+393delT
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.363+394delT
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.363+394delT
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.381+394delT
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: TA
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/6-127648094-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648094
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648094
    reference: chr 6
allele count: 1
allele frequency: 8.30592378484335e-6
allele num: 120396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.284+53T>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.235+53T>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.363+53T>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.136+53T>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.363+53T>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.363+53T>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.363+53T>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.138+53T>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.367+49T>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.363+53T>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.381+53T>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  hgvsc: ENST00000368287.1:n.441T>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000432265
  ensembl transcript: ENST00000460558
  gene symbol: ECHDC1
  hgvsc: ENST00000460558.1:c.11+53T>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*172+53T>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.138+53T>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.363+53T>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.363+53T>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.363+53T>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.363+52T>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.363+53T>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.363+53T>G
  variant of: http://identifiers.org/hgnc/21489
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

6-127648124-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648124
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648124
    reference: chr 6
allele count: 1
allele frequency: 8.279516476237788e-6
allele num: 120780
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.363+23A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.363+23A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.363+22A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.363+23A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.138+23A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.363+23A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.363+23A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  hgvsc: ENST00000368287.1:n.411A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.138+23A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.363+23A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.363+23A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.381+23A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.363+23A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.136+23A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.235+23A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.363+23A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.363+23A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*172+23A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.284+23A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.367+19A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000432265
  ensembl transcript: ENST00000460558
  gene symbol: ECHDC1
  hgvsc: ENST00000460558.1:c.11+23A>T
  variant of: http://identifiers.org/hgnc/21489
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

6-127648135-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648135
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648135
    reference: chr 6
allele count: 1
allele frequency: 8.260230295220631e-6
allele num: 121062
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.363+12A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.363+12A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.363+12A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.284+12A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.363+12A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.367+8A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.381+12A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.363+12A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.363+12A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.235+12A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.136+12A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.138+12A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  hgvsc: ENST00000368287.1:n.400A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.363+12A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.363+12A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.363+12A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*172+12A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.363+12A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.363+11A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000432265
  ensembl transcript: ENST00000460558
  gene symbol: ECHDC1
  hgvsc: ENST00000460558.1:c.11+12A>G
  variant of: http://identifiers.org/hgnc/21489
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.367+8A>G
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum

6-127648141-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648141
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648141
    reference: chr 6
allele count: 2
allele frequency: 1.650519088253256e-5
allele num: 121174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*172+6T>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.363+6T>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.363+6T>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.363+5T>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.363+6T>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  hgvsc: ENST00000368287.1:n.394T>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.363+6T>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.363+6T>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.138+6T>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.363+6T>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.363+6T>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.136+6T>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.367+2T>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.138+6T>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.363+6T>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.284+6T>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000432265
  ensembl transcript: ENST00000460558
  gene symbol: ECHDC1
  hgvsc: ENST00000460558.1:c.11+6T>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.363+6T>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.235+6T>A
  variant of: http://identifiers.org/hgnc/21489
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.367+2T>A
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

6-127648145-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648145
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648145
    reference: chr 6
allele count: 13
allele frequency: 1.072253381722204e-4
allele num: 121240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.363+2C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.363+2C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.138+2C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.363+2C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.363+2C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000432265
  ensembl transcript: ENST00000460558
  gene symbol: ECHDC1
  hgvsc: ENST00000460558.1:c.11+2C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.363+2C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.138+2C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.381+2C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.235+2C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.363+2C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*172+2C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.363+1C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.365C>T
  hgvsp: ENSP00000357278.4:p.Ala122Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.363+2C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.136+2C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.363+2C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  hgvsc: ENST00000368287.1:n.390C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.363+2C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.284+2C>T
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.381+2C>T
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

6-127648155-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648155
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648155
    reference: chr 6
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.355A>G
  hgvsp: ENSP00000357272.2:p.Thr119Ala
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.355A>G
  hgvsp: ENSP00000357274.2:p.Thr119Ala
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.355A>G
  hgvsp: ENSP00000402492.2:p.Thr119Ala
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*164A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.227A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.354+1A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  hgvsc: ENST00000368287.1:n.380A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000432265
  ensembl transcript: ENST00000460558
  gene symbol: ECHDC1
  hgvsc: ENST00000460558.1:c.3A>G
  hgvsp: ENSP00000432265.1:p.Thr2Ala
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.276A>G
  hgvsp: ENSP00000399233.1:p.Thr93Ala
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.355A>G
  hgvsp: ENSP00000435502.1:p.Thr119Ala
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.355A>G
  hgvsp: ENSP00000434143.1:p.Thr119Ala
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.130A>G
  hgvsp: ENSP00000436109.1:p.Thr44Ala
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.130A>G
  hgvsp: ENSP00000404866.2:p.Thr44Ala
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.355A>G
  hgvsp: ENSP00000357278.4:p.Thr119Ala
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.355A>G
  hgvsp: ENSP00000436703.1:p.Thr119Ala
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.128A>G
  hgvsp: ENSP00000396096.2:p.Thr44Ala
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.373A>G
  hgvsp: ENSP00000436585.1:p.Thr125Ala
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.355A>G
  hgvsp: ENSP00000420711.2:p.Thr119Ala
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.355A>G
  hgvsp: ENSP00000401751.3:p.Thr119Ala
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr125Ala
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

6-127648159-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648159
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648159
    reference: chr 6
allele count: 13
allele frequency: 1.071352046282408e-4
allele num: 121342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.351A>G
  hgvsp: ENST00000368295.4:c.351A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.351A>G
  hgvsp: ENST00000479525.2:c.351A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.126A>G
  hgvsp: ENST00000528402.1:c.126A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.351A>G
  hgvsp: ENST00000430841.2:c.351A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.351A>G
  hgvsp: ENST00000531582.1:c.351A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  hgvsc: ENST00000368287.1:n.376A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.351A>G
  hgvsp: ENST00000454859.3:c.351A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.351A>G
  hgvsp: ENST00000474289.2:c.351A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.272A>G
  hgvsp: ENST00000436638.1:c.272A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.369A>G
  hgvsp: ENST00000531967.1:c.369A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.124A>G
  hgvsp: ENST00000417628.2:c.124A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.351A>G
  hgvsp: ENST00000368292.6:c.351A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.351A>G
  hgvsp: ENST00000368289.2:c.351A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.351A>G
  hgvsp: ENST00000368291.2:c.351A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.351A>G
  hgvsp: ENST00000309620.9:c.351A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.351A>G
  hgvsp: ENST00000534442.1:c.351A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.126A>G
  hgvsp: ENST00000454591.2:c.126A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*160A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.223A>G
  variant of: http://identifiers.org/hgnc/21489
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.351A>G
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

6-127648174-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648174
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648174
    reference: chr 6
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*145T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.257T>C
  hgvsp: ENST00000436638.1:c.257T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.354T>C
  hgvsp: ENST00000531967.1:c.354T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.336T>C
  hgvsp: ENST00000368291.2:c.336T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.336T>C
  hgvsp: ENST00000479525.2:c.336T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.111T>C
  hgvsp: ENST00000454591.2:c.111T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.336T>C
  hgvsp: ENST00000430841.2:c.336T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.109T>C
  hgvsp: ENST00000417628.2:c.109T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.336T>C
  hgvsp: ENST00000534442.1:c.336T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.336T>C
  hgvsp: ENST00000454859.3:c.336T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.336T>C
  hgvsp: ENST00000309620.9:c.336T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.336T>C
  hgvsp: ENST00000368289.2:c.336T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.336T>C
  hgvsp: ENST00000525745.1:c.336T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.336T>C
  hgvsp: ENST00000531582.1:c.336T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.111T>C
  hgvsp: ENST00000528402.1:c.111T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  hgvsc: ENST00000368287.1:n.361T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.336T>C
  hgvsp: ENST00000368292.6:c.336T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.336T>C
  hgvsp: ENST00000368295.4:c.336T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.336T>C
  hgvsp: ENST00000474289.2:c.336T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asn118Asn
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

6-127648177-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648177
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648177
    reference: chr 6
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.333G>C
  hgvsp: ENST00000534442.1:c.333G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.351G>C
  hgvsp: ENST00000531967.1:c.351G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.333G>C
  hgvsp: ENST00000368289.2:c.333G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*142G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.333G>C
  hgvsp: ENST00000309620.9:c.333G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.205G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.333G>C
  hgvsp: ENST00000368291.2:c.333G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.333G>C
  hgvsp: ENST00000474289.2:c.333G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.333G>C
  hgvsp: ENST00000430841.2:c.333G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.333G>C
  hgvsp: ENST00000368295.4:c.333G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.254G>C
  hgvsp: ENST00000436638.1:c.254G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.108G>C
  hgvsp: ENST00000528402.1:c.108G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.333G>C
  hgvsp: ENST00000531582.1:c.333G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.108G>C
  hgvsp: ENST00000454591.2:c.108G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.333G>C
  hgvsp: ENST00000525745.1:c.333G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.106G>C
  hgvsp: ENST00000417628.2:c.106G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.333G>C
  hgvsp: ENST00000368292.6:c.333G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.333G>C
  hgvsp: ENST00000454859.3:c.333G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  hgvsc: ENST00000368287.1:n.358G>C
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu117Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

6-127648198-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648198
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648198
    reference: chr 6
allele count: 3
allele frequency: 2.471291826614165e-5
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.87T>C
  hgvsp: ENST00000528402.1:c.87T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.312T>C
  hgvsp: ENST00000531582.1:c.312T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.85T>C
  hgvsp: ENST00000417628.2:c.85T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.330T>C
  hgvsp: ENST00000531967.1:c.330T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  hgvsc: ENST00000368287.1:n.337T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.312T>C
  hgvsp: ENST00000368292.6:c.312T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.312T>C
  hgvsp: ENST00000474289.2:c.312T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.87T>C
  hgvsp: ENST00000454591.2:c.87T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.312T>C
  hgvsp: ENST00000479525.2:c.312T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*121T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.312T>C
  hgvsp: ENST00000368289.2:c.312T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.312T>C
  hgvsp: ENST00000368291.2:c.312T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.312T>C
  hgvsp: ENST00000534442.1:c.312T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.233T>C
  hgvsp: ENST00000436638.1:c.233T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.312T>C
  hgvsp: ENST00000454859.3:c.312T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.312T>C
  hgvsp: ENST00000525745.1:c.312T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.184T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.312T>C
  hgvsp: ENST00000309620.9:c.312T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.312T>C
  hgvsp: ENST00000368295.4:c.312T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr110Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

6-127648208-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648208
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648208
    reference: chr 6
allele count: 5
allele frequency: 4.118955432902216e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.302C>T
  hgvsp: ENSP00000434908.1:p.Ala101Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.302C>T
  hgvsp: ENSP00000436703.1:p.Ala101Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.77C>T
  hgvsp: ENSP00000404866.2:p.Ala26Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.302C>T
  hgvsp: ENSP00000435068.1:p.Ala101Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.302C>T
  hgvsp: ENSP00000401751.3:p.Ala101Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.302C>T
  hgvsp: ENSP00000357274.2:p.Ala101Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.223C>T
  hgvsp: ENSP00000399233.1:p.Ala75Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.77C>T
  hgvsp: ENSP00000436109.1:p.Ala26Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.302C>T
  hgvsp: ENSP00000420711.2:p.Ala101Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.302C>T
  hgvsp: ENSP00000435502.1:p.Ala101Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.302C>T
  hgvsp: ENSP00000311115.9:p.Ala101Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.302C>T
  hgvsp: ENSP00000402492.2:p.Ala101Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.320C>T
  hgvsp: ENSP00000436585.1:p.Ala107Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.302C>T
  hgvsp: ENSP00000357278.4:p.Ala101Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.75C>T
  hgvsp: ENSP00000396096.2:p.Ala26Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.174C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.302C>T
  hgvsp: ENSP00000434143.1:p.Ala101Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*111C>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  hgvsc: ENST00000368287.1:n.327C>T
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala107Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

6-127648210-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648210
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648210
    reference: chr 6
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.172G>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.300G>A
  hgvsp: ENST00000368295.4:c.300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.75G>A
  hgvsp: ENST00000528402.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.300G>A
  hgvsp: ENST00000534442.1:c.300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.73G>A
  hgvsp: ENST00000417628.2:c.73G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.300G>A
  hgvsp: ENST00000525745.1:c.300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.318G>A
  hgvsp: ENST00000531967.1:c.318G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.300G>A
  hgvsp: ENST00000368289.2:c.300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.221G>A
  hgvsp: ENST00000436638.1:c.221G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.300G>A
  hgvsp: ENST00000454859.3:c.300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.300G>A
  hgvsp: ENST00000479525.2:c.300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.300G>A
  hgvsp: ENST00000368292.6:c.300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.300G>A
  hgvsp: ENST00000368291.2:c.300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.300G>A
  hgvsp: ENST00000309620.9:c.300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.300G>A
  hgvsp: ENST00000430841.2:c.300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.300G>A
  hgvsp: ENST00000531582.1:c.300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.300G>A
  hgvsp: ENST00000474289.2:c.300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*109G>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.75G>A
  hgvsp: ENST00000454591.2:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly106Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

6-127648214-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648214
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648214
    reference: chr 6
allele count: 16
allele frequency: 1.318109172392203e-4
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.296G>A
  hgvsp: ENSP00000435502.1:p.Arg99His
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.296G>A
  hgvsp: ENSP00000436703.1:p.Arg99His
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.296G>A
  hgvsp: ENSP00000401751.3:p.Arg99His
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.296G>A
  hgvsp: ENSP00000420711.2:p.Arg99His
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.296G>A
  hgvsp: ENSP00000357278.4:p.Arg99His
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.71G>A
  hgvsp: ENSP00000436109.1:p.Arg24His
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.296G>A
  hgvsp: ENSP00000434908.1:p.Arg99His
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.296G>A
  hgvsp: ENSP00000434143.1:p.Arg99His
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.296G>A
  hgvsp: ENSP00000311115.9:p.Arg99His
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.69G>A
  hgvsp: ENSP00000396096.2:p.Arg24His
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.217G>A
  hgvsp: ENSP00000399233.1:p.Arg73His
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.296G>A
  hgvsp: ENSP00000357274.2:p.Arg99His
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.296G>A
  hgvsp: ENSP00000357272.2:p.Arg99His
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.168G>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.314G>A
  hgvsp: ENSP00000436585.1:p.Arg105His
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.71G>A
  hgvsp: ENSP00000404866.2:p.Arg24His
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.296G>A
  hgvsp: ENSP00000435068.1:p.Arg99His
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*105G>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  hgvsc: ENST00000368287.1:n.321G>A
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg105His
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

6-127648224-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648224
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648224
    reference: chr 6
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.286C>A
  hgvsp: ENSP00000434143.1:p.Leu96Ile
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.207C>A
  hgvsp: ENSP00000399233.1:p.Leu70Ile
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.286C>A
  hgvsp: ENSP00000435502.1:p.Leu96Ile
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.61C>A
  hgvsp: ENSP00000436109.1:p.Leu21Ile
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.286C>A
  hgvsp: ENSP00000357278.4:p.Leu96Ile
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.158C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.286C>A
  hgvsp: ENSP00000311115.9:p.Leu96Ile
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.286C>A
  hgvsp: ENSP00000434908.1:p.Leu96Ile
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.286C>A
  hgvsp: ENSP00000401751.3:p.Leu96Ile
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.286C>A
  hgvsp: ENSP00000436703.1:p.Leu96Ile
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.304C>A
  hgvsp: ENSP00000436585.1:p.Leu102Ile
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.61C>A
  hgvsp: ENSP00000404866.2:p.Leu21Ile
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.286C>A
  hgvsp: ENSP00000357272.2:p.Leu96Ile
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.59C>A
  hgvsp: ENSP00000396096.2:p.Leu21Ile
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*95C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  hgvsc: ENST00000368287.1:n.311C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.286C>A
  hgvsp: ENSP00000435068.1:p.Leu96Ile
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.286C>A
  hgvsp: ENSP00000420711.2:p.Leu96Ile
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.286C>A
  hgvsp: ENSP00000357274.2:p.Leu96Ile
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu102Ile
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

6-127648228-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648228
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648228
    reference: chr 6
allele count: 2
allele frequency: 1.647880825258717e-5
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.300A>G
  hgvsp: ENST00000531967.1:c.300A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.282A>G
  hgvsp: ENST00000474289.2:c.282A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.282A>G
  hgvsp: ENST00000531582.1:c.282A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.282A>G
  hgvsp: ENST00000368289.2:c.282A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.154A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.282A>G
  hgvsp: ENST00000454859.3:c.282A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*91A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.203A>G
  hgvsp: ENST00000436638.1:c.203A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.282A>G
  hgvsp: ENST00000525745.1:c.282A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  hgvsc: ENST00000368287.1:n.307A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.282A>G
  hgvsp: ENST00000368291.2:c.282A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.57A>G
  hgvsp: ENST00000528402.1:c.57A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.55A>G
  hgvsp: ENST00000417628.2:c.55A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.282A>G
  hgvsp: ENST00000309620.9:c.282A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.282A>G
  hgvsp: ENST00000479525.2:c.282A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.282A>G
  hgvsp: ENST00000368292.6:c.282A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.282A>G
  hgvsp: ENST00000534442.1:c.282A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.282A>G
  hgvsp: ENST00000430841.2:c.282A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.282A>G
  hgvsp: ENST00000368295.4:c.282A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys100Lys
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/6-127648254-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648254
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648253
    reference: chr 6
allele count: 2
allele frequency: 1.648206751054852e-5
allele num: 121344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.255delT
  hgvsp: ENSP00000435502.1:p.Ile85MetfsTer27
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.255delT
  hgvsp: ENSP00000435068.1:p.Ile85MetfsTer27
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.255delT
  hgvsp: ENSP00000420711.2:p.Ile85MetfsTer27
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.255delT
  hgvsp: ENSP00000402492.2:p.Ile85MetfsTer27
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.176delT
  hgvsp: ENSP00000399233.1:p.Ile59MetfsTer27
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.28delT
  hgvsp: ENSP00000396096.2:p.Ile10MetfsTer27
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.255delT
  hgvsp: ENSP00000434143.1:p.Ile85MetfsTer27
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.255delT
  hgvsp: ENSP00000401751.3:p.Ile85MetfsTer27
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.127delT
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.255delT
  hgvsp: ENSP00000436703.1:p.Ile85MetfsTer27
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.30delT
  hgvsp: ENSP00000436109.1:p.Ile10MetfsTer27
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  hgvsc: ENST00000368287.1:n.280delT
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*64delT
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.255delT
  hgvsp: ENSP00000357274.2:p.Ile85MetfsTer27
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.273delT
  hgvsp: ENSP00000436585.1:p.Ile91MetfsTer27
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.255delT
  hgvsp: ENSP00000434908.1:p.Ile85MetfsTer27
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.255delT
  hgvsp: ENSP00000357278.4:p.Ile85MetfsTer27
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.255delT
  hgvsp: ENSP00000357272.2:p.Ile85MetfsTer27
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.255delT
  hgvsp: ENSP00000311115.9:p.Ile85MetfsTer27
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile91MetfsTer27
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: CA
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

6-127648257-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648257
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648257
    reference: chr 6
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.253A>G
  hgvsp: ENSP00000420711.2:p.Ile85Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.253A>G
  hgvsp: ENSP00000357278.4:p.Ile85Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.253A>G
  hgvsp: ENSP00000357272.2:p.Ile85Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.253A>G
  hgvsp: ENSP00000434908.1:p.Ile85Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.253A>G
  hgvsp: ENSP00000434143.1:p.Ile85Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.253A>G
  hgvsp: ENSP00000357274.2:p.Ile85Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.28A>G
  hgvsp: ENSP00000436109.1:p.Ile10Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.271A>G
  hgvsp: ENSP00000436585.1:p.Ile91Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.28A>G
  hgvsp: ENSP00000404866.2:p.Ile10Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.253A>G
  hgvsp: ENSP00000435502.1:p.Ile85Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  hgvsc: ENST00000368287.1:n.278A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.125A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.253A>G
  hgvsp: ENSP00000436703.1:p.Ile85Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.253A>G
  hgvsp: ENSP00000401751.3:p.Ile85Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.26A>G
  hgvsp: ENSP00000396096.2:p.Ile10Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*62A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.253A>G
  hgvsp: ENSP00000402492.2:p.Ile85Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.253A>G
  hgvsp: ENSP00000311115.9:p.Ile85Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.174A>G
  hgvsp: ENSP00000399233.1:p.Ile59Val
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile91Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

6-127648258-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648258
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648258
    reference: chr 6
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.124A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.252A>G
  hgvsp: ENST00000531582.1:c.252A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.252A>G
  hgvsp: ENST00000474289.2:c.252A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.27A>G
  hgvsp: ENST00000454591.2:c.27A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.252A>G
  hgvsp: ENST00000479525.2:c.252A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.173A>G
  hgvsp: ENST00000436638.1:c.173A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.252A>G
  hgvsp: ENST00000368292.6:c.252A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.252A>G
  hgvsp: ENST00000525745.1:c.252A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.252A>G
  hgvsp: ENST00000368295.4:c.252A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.252A>G
  hgvsp: ENST00000534442.1:c.252A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.252A>G
  hgvsp: ENST00000454859.3:c.252A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.270A>G
  hgvsp: ENST00000531967.1:c.270A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  hgvsc: ENST00000368287.1:n.277A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.27A>G
  hgvsp: ENST00000528402.1:c.27A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.252A>G
  hgvsp: ENST00000309620.9:c.252A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.25A>G
  hgvsp: ENST00000417628.2:c.25A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.252A>G
  hgvsp: ENST00000368289.2:c.252A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.252A>G
  hgvsp: ENST00000368291.2:c.252A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.252A>G
  hgvsp: ENST00000430841.2:c.252A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val90Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

6-127648264-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648264
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648264
    reference: chr 6
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  hgvsc: ENST00000368287.1:n.271A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.246A>G
  hgvsp: ENST00000474289.2:c.246A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.118A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.21A>G
  hgvsp: ENST00000528402.1:c.21A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.167A>G
  hgvsp: ENST00000436638.1:c.167A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.19A>G
  hgvsp: ENST00000417628.2:c.19A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.246A>G
  hgvsp: ENST00000454859.3:c.246A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.246A>G
  hgvsp: ENST00000430841.2:c.246A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.246A>G
  hgvsp: ENST00000368289.2:c.246A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.246A>G
  hgvsp: ENST00000525745.1:c.246A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.246A>G
  hgvsp: ENST00000368295.4:c.246A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.246A>G
  hgvsp: ENST00000368291.2:c.246A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.246A>G
  hgvsp: ENST00000309620.9:c.246A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.246A>G
  hgvsp: ENST00000368292.6:c.246A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.246A>G
  hgvsp: ENST00000534442.1:c.246A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.246A>G
  hgvsp: ENST00000531582.1:c.246A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*55A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.21A>G
  hgvsp: ENST00000454591.2:c.21A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.246A>G
  hgvsp: ENST00000479525.2:c.246A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu88Glu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

6-127648265-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648265
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648265
    reference: chr 6
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.245A>T
  hgvsp: ENSP00000401751.3:p.Glu82Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.245A>T
  hgvsp: ENSP00000311115.9:p.Glu82Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.245A>T
  hgvsp: ENSP00000420711.2:p.Glu82Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.245A>T
  hgvsp: ENSP00000434143.1:p.Glu82Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*54A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.245A>T
  hgvsp: ENSP00000357278.4:p.Glu82Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.245A>T
  hgvsp: ENSP00000357274.2:p.Glu82Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.245A>T
  hgvsp: ENSP00000436703.1:p.Glu82Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.245A>T
  hgvsp: ENSP00000434908.1:p.Glu82Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.245A>T
  hgvsp: ENSP00000435502.1:p.Glu82Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.20A>T
  hgvsp: ENSP00000436109.1:p.Glu7Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.117A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.20A>T
  hgvsp: ENSP00000404866.2:p.Glu7Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.263A>T
  hgvsp: ENSP00000436585.1:p.Glu88Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.245A>T
  hgvsp: ENSP00000357272.2:p.Glu82Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  hgvsc: ENST00000368287.1:n.270A>T
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.245A>T
  hgvsp: ENSP00000435068.1:p.Glu82Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.18A>T
  hgvsp: ENSP00000396096.2:p.Glu7Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.166A>T
  hgvsp: ENSP00000399233.1:p.Glu56Val
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu88Val
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum

6-127648267-CAGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648267
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648264
    reference: chr 6
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  hgvsc: ENST00000368287.1:n.265_267delTCT
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.258_260delTCT
  hgvsp: ENSP00000436585.1:p.Leu87del
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.240_242delTCT
  hgvsp: ENSP00000357272.2:p.Leu81del
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.161_163delTCT
  hgvsp: ENSP00000399233.1:p.Leu55del
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.240_242delTCT
  hgvsp: ENSP00000435502.1:p.Leu81del
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.240_242delTCT
  hgvsp: ENSP00000436703.1:p.Leu81del
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.240_242delTCT
  hgvsp: ENSP00000357278.4:p.Leu81del
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.240_242delTCT
  hgvsp: ENSP00000434908.1:p.Leu81del
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.112_114delTCT
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.240_242delTCT
  hgvsp: ENSP00000435068.1:p.Leu81del
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.13_15delTCT
  hgvsp: ENSP00000396096.2:p.Leu6del
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.240_242delTCT
  hgvsp: ENSP00000434143.1:p.Leu81del
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.240_242delTCT
  hgvsp: ENSP00000420711.2:p.Leu81del
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.240_242delTCT
  hgvsp: ENSP00000401751.3:p.Leu81del
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*49_*51delTCT
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.240_242delTCT
  hgvsp: ENSP00000402492.2:p.Leu81del
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.15_17delTCT
  hgvsp: ENSP00000436109.1:p.Leu6del
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.240_242delTCT
  hgvsp: ENSP00000311115.9:p.Leu81del
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.240_242delTCT
  hgvsp: ENSP00000357274.2:p.Leu81del
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu87del
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: CAGA
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

6-127648270-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648270
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648270
    reference: chr 6
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.240T>C
  hgvsp: ENST00000474289.2:c.240T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.15T>C
  hgvsp: ENST00000454591.2:c.15T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.240T>C
  hgvsp: ENST00000454859.3:c.240T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.240T>C
  hgvsp: ENST00000534442.1:c.240T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.161T>C
  hgvsp: ENST00000436638.1:c.161T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.240T>C
  hgvsp: ENST00000531582.1:c.240T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.240T>C
  hgvsp: ENST00000368289.2:c.240T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  hgvsc: ENST00000368287.1:n.265T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.15T>C
  hgvsp: ENST00000528402.1:c.15T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.240T>C
  hgvsp: ENST00000479525.2:c.240T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.240T>C
  hgvsp: ENST00000368292.6:c.240T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.240T>C
  hgvsp: ENST00000368295.4:c.240T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.258T>C
  hgvsp: ENST00000531967.1:c.258T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.13T>C
  hgvsp: ENST00000417628.2:c.13T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*49T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.112T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.240T>C
  hgvsp: ENST00000430841.2:c.240T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.240T>C
  hgvsp: ENST00000368291.2:c.240T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.240T>C
  hgvsp: ENST00000525745.1:c.240T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu86Leu
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

6-127648273-TTGTAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648273
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648268
    reference: chr 6
allele count: 1
allele frequency: 8.246878556466378e-6
allele num: 121258
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*41_*45delCTACA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.232_236delCTACA
  hgvsp: ENSP00000436703.1:p.Leu78ThrfsTer7
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.232_236delCTACA
  hgvsp: ENSP00000401751.3:p.Leu78ThrfsTer7
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.232_236delCTACA
  hgvsp: ENSP00000434143.1:p.Leu78ThrfsTer7
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.7_11delCTACA
  hgvsp: ENSP00000436109.1:p.Leu3ThrfsTer7
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.153_157delCTACA
  hgvsp: ENSP00000399233.1:p.Leu52ThrfsTer7
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.232_236delCTACA
  hgvsp: ENSP00000435502.1:p.Leu78ThrfsTer7
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.232_236delCTACA
  hgvsp: ENSP00000435068.1:p.Leu78ThrfsTer7
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.232_236delCTACA
  hgvsp: ENSP00000357278.4:p.Leu78ThrfsTer7
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.104_108delCTACA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.232_236delCTACA
  hgvsp: ENSP00000420711.2:p.Leu78ThrfsTer7
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.232_236delCTACA
  hgvsp: ENSP00000434908.1:p.Leu78ThrfsTer7
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.232_236delCTACA
  hgvsp: ENSP00000311115.9:p.Leu78ThrfsTer7
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.232_236delCTACA
  hgvsp: ENSP00000357274.2:p.Leu78ThrfsTer7
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.5_9delCTACA
  hgvsp: ENSP00000396096.2:p.Leu3ThrfsTer7
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.7_11delCTACA
  hgvsp: ENSP00000404866.2:p.Leu3ThrfsTer7
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.232_236delCTACA
  hgvsp: ENSP00000357272.2:p.Leu78ThrfsTer7
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  hgvsc: ENST00000368287.1:n.257_261delCTACA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.250_254delCTACA
  hgvsp: ENSP00000436585.1:p.Leu84ThrfsTer7
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu84ThrfsTer7
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: TTGTAG
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

6-127648277-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648277
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648277
    reference: chr 6
allele count: 1
allele frequency: 8.249463784853985e-6
allele num: 121220
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.233T>C
  hgvsp: ENSP00000435068.1:p.Leu78Pro
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.8T>C
  hgvsp: ENSP00000436109.1:p.Leu3Pro
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.233T>C
  hgvsp: ENSP00000435502.1:p.Leu78Pro
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.8T>C
  hgvsp: ENSP00000404866.2:p.Leu3Pro
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.233T>C
  hgvsp: ENSP00000402492.2:p.Leu78Pro
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.233T>C
  hgvsp: ENSP00000436703.1:p.Leu78Pro
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.154T>C
  hgvsp: ENSP00000399233.1:p.Leu52Pro
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.6T>C
  hgvsp: ENSP00000396096.2:p.Leu3Pro
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.233T>C
  hgvsp: ENSP00000401751.3:p.Leu78Pro
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.233T>C
  hgvsp: ENSP00000357278.4:p.Leu78Pro
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.233T>C
  hgvsp: ENSP00000420711.2:p.Leu78Pro
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  hgvsc: ENST00000368287.1:n.258T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.233T>C
  hgvsp: ENSP00000434143.1:p.Leu78Pro
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*42T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.233T>C
  hgvsp: ENSP00000434908.1:p.Leu78Pro
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.105T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.233T>C
  hgvsp: ENSP00000357272.2:p.Leu78Pro
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.251T>C
  hgvsp: ENSP00000436585.1:p.Leu84Pro
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.233T>C
  hgvsp: ENSP00000311115.9:p.Leu78Pro
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu84Pro
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

6-127648278-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648278
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648278
    reference: chr 6
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.7C>G
  hgvsp: ENSP00000436109.1:p.Leu3Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*41C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.232C>G
  hgvsp: ENSP00000436703.1:p.Leu78Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.232C>G
  hgvsp: ENSP00000420711.2:p.Leu78Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.232C>G
  hgvsp: ENSP00000434908.1:p.Leu78Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.250C>G
  hgvsp: ENSP00000436585.1:p.Leu84Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.232C>G
  hgvsp: ENSP00000401751.3:p.Leu78Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.153C>G
  hgvsp: ENSP00000399233.1:p.Leu52Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.232C>G
  hgvsp: ENSP00000435068.1:p.Leu78Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.232C>G
  hgvsp: ENSP00000357272.2:p.Leu78Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.232C>G
  hgvsp: ENSP00000435502.1:p.Leu78Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.232C>G
  hgvsp: ENSP00000434143.1:p.Leu78Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.7C>G
  hgvsp: ENSP00000404866.2:p.Leu3Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  hgvsc: ENST00000368287.1:n.257C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.232C>G
  hgvsp: ENSP00000311115.9:p.Leu78Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.232C>G
  hgvsp: ENSP00000402492.2:p.Leu78Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.104C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.232C>G
  hgvsp: ENSP00000357274.2:p.Leu78Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.5C>G
  hgvsp: ENSP00000396096.2:p.Leu3Val
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu84Val
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

6-127648280-A-ACCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648280
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648283
    reference: chr 6
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: ACCT
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*38_*39insAGG
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.229_230insAGG
  hgvsp: ENSP00000436703.1:p.Met77delinsLysVal
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.4_5insAGG
  hgvsp: ENSP00000404866.2:p.Met2delinsLysVal
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.2_3insAGG
  hgvsp: ENSP00000396096.2:p.Met2delinsLysVal
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.229_230insAGG
  hgvsp: ENSP00000357272.2:p.Met77delinsLysVal
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.229_230insAGG
  hgvsp: ENSP00000357278.4:p.Met77delinsLysVal
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.229_230insAGG
  hgvsp: ENSP00000401751.3:p.Met77delinsLysVal
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: protein_altering_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.247_248insAGG
  hgvsp: ENSP00000436585.1:p.Met83delinsLysVal
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.229_230insAGG
  hgvsp: ENSP00000434143.1:p.Met77delinsLysVal
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.229_230insAGG
  hgvsp: ENSP00000357274.2:p.Met77delinsLysVal
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.150_151insAGG
  hgvsp: ENSP00000399233.1:p.Met51delinsLysVal
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.229_230insAGG
  hgvsp: ENSP00000434908.1:p.Met77delinsLysVal
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.101_102insAGG
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.229_230insAGG
  hgvsp: ENSP00000435068.1:p.Met77delinsLysVal
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.229_230insAGG
  hgvsp: ENSP00000435502.1:p.Met77delinsLysVal
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.4_5insAGG
  hgvsp: ENSP00000436109.1:p.Met2delinsLysVal
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.229_230insAGG
  hgvsp: ENSP00000420711.2:p.Met77delinsLysVal
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.229_230insAGG
  hgvsp: ENSP00000402492.2:p.Met77delinsLysVal
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.229_230insAGG
  hgvsp: ENSP00000311115.9:p.Met77delinsLysVal
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: protein altering
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met83delinsLysVal
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

6-127648281-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648281
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648281
    reference: chr 6
allele count: 2
allele frequency: 1.650464605786529e-5
allele num: 121178
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.4A>G
  hgvsp: ENSP00000436109.1:p.Met2Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.229A>G
  hgvsp: ENSP00000434908.1:p.Met77Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.101A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.229A>G
  hgvsp: ENSP00000435502.1:p.Met77Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*38A>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.4A>G
  hgvsp: ENSP00000404866.2:p.Met2Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.229A>G
  hgvsp: ENSP00000357278.4:p.Met77Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000396096
  ensembl transcript: ENST00000417628
  gene symbol: ECHDC1
  hgvsc: ENST00000417628.2:c.2A>G
  hgvsp: ENSP00000396096.2:p.Met2Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.229A>G
  hgvsp: ENSP00000420711.2:p.Met77Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.229A>G
  hgvsp: ENSP00000401751.3:p.Met77Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.229A>G
  hgvsp: ENSP00000436703.1:p.Met77Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.229A>G
  hgvsp: ENSP00000434143.1:p.Met77Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.247A>G
  hgvsp: ENSP00000436585.1:p.Met83Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.229A>G
  hgvsp: ENSP00000357274.2:p.Met77Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.229A>G
  hgvsp: ENSP00000311115.9:p.Met77Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.229A>G
  hgvsp: ENSP00000435068.1:p.Met77Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.229A>G
  hgvsp: ENSP00000402492.2:p.Met77Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.150A>G
  hgvsp: ENSP00000399233.1:p.Met51Val
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.229A>G
  hgvsp: ENSP00000357272.2:p.Met77Val
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met83Val
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

6-127648285-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648285
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648286
    reference: chr 6
allele count: 1
allele frequency: 8.255729476256522e-6
allele num: 121128
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*33_*34insA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  hgvsc: ENST00000368287.1:n.249_250insA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.224_225insA
  hgvsp: ENSP00000357274.2:p.Met76TyrfsTer11
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.145_146insA
  hgvsp: ENSP00000399233.1:p.Met50TyrfsTer11
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.224_225insA
  hgvsp: ENSP00000436703.1:p.Met76TyrfsTer11
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.224_225insA
  hgvsp: ENSP00000402492.2:p.Met76TyrfsTer11
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.-2_-1insA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.224_225insA
  hgvsp: ENSP00000435502.1:p.Met76TyrfsTer11
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.224_225insA
  hgvsp: ENSP00000420711.2:p.Met76TyrfsTer11
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.224_225insA
  hgvsp: ENSP00000401751.3:p.Met76TyrfsTer11
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.224_225insA
  hgvsp: ENSP00000311115.9:p.Met76TyrfsTer11
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.242_243insA
  hgvsp: ENSP00000436585.1:p.Met82TyrfsTer11
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.224_225insA
  hgvsp: ENSP00000434143.1:p.Met76TyrfsTer11
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.224_225insA
  hgvsp: ENSP00000357272.2:p.Met76TyrfsTer11
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.224_225insA
  hgvsp: ENSP00000435068.1:p.Met76TyrfsTer11
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.-2_-1insA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.224_225insA
  hgvsp: ENSP00000357278.4:p.Met76TyrfsTer11
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.224_225insA
  hgvsp: ENSP00000434908.1:p.Met76TyrfsTer11
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.96_97insA
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Met82TyrfsTer11
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

6-127648286-A-ATTTGTGATTTCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648286
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648298
    reference: chr 6
allele count: 1
allele frequency: 8.25559316436886e-6
allele num: 121130
alternate allele: ATTTGTGATTTCC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: protein_altering_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: protein altering
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val81delinsGlyLysSerGlnIle
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP

6-127648289-C-CTTCCATCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648289
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648297
    reference: chr 6
allele count: 1
allele frequency: 8.258047467256841e-6
allele num: 121094
alternate allele: CTTCCATCT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsp: ENSP00000436703.1:p.Gly74GlufsTer6
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsp: ENSP00000357278.4:p.Gly74GlufsTer6
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsp: ENSP00000402492.2:p.Gly74GlufsTer6
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsp: ENSP00000401751.3:p.Gly74GlufsTer6
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsp: ENSP00000357274.2:p.Gly74GlufsTer6
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsp: ENSP00000434143.1:p.Gly74GlufsTer6
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsp: ENSP00000399233.1:p.Gly48GlufsTer6
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsp: ENSP00000435068.1:p.Gly74GlufsTer6
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.93-1_93insAGATGGAA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsp: ENSP00000311115.9:p.Gly74GlufsTer6
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsp: ENSP00000357272.2:p.Gly74GlufsTer6
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.-5-1_-5insAGATGGAA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsp: ENSP00000434908.1:p.Gly74GlufsTer6
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsp: ENSP00000435502.1:p.Gly74GlufsTer6
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsp: ENSP00000436585.1:p.Gly80GlufsTer6
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsp: ENSP00000420711.2:p.Gly74GlufsTer6
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.-5-1_-5insAGATGGAA
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly80GlufsTer6
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

6-127648293-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648293
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648293
    reference: chr 6
allele count: 1
allele frequency: 8.263916435277007e-6
allele num: 121008
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.-5-4G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.221-4G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.221-4G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.221-4G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.221-4G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.239-4G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.-5-4G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.93-4G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.221-4G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.221-4G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.221-4G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.221-4G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.221-4G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.221-4G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*30-4G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.142-4G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.221-4G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  hgvsc: ENST00000368287.1:n.246-4G>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.221-4G>C
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.239-4G>C
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

6-127648296-G-GGTGTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648296
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648301
    reference: chr 6
allele count: 1
allele frequency: 8.264736024331383e-6
allele num: 120996
alternate allele: GGTGTT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.93-8_93-7insAACAC
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.221-8_221-7insAACAC
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.221-8_221-7insAACAC
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.221-8_221-7insAACAC
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.-5-8_-5-7insAACAC
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.221-8_221-7insAACAC
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.221-8_221-7insAACAC
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.221-8_221-7insAACAC
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.221-8_221-7insAACAC
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.-5-8_-5-7insAACAC
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  hgvsc: ENST00000368287.1:n.246-8_246-7insAACAC
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.221-8_221-7insAACAC
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.221-8_221-7insAACAC
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.239-8_239-7insAACAC
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*30-8_*30-7insAACAC
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.221-8_221-7insAACAC
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.221-8_221-7insAACAC
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.142-8_142-7insAACAC
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.221-8_221-7insAACAC
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.239-8_239-7insAACAC
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

6-127648297-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648297
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648298
    reference: chr 6
allele count: 1
allele frequency: 8.266649031148734e-6
allele num: 120968
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.221-9_221-8insA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.142-9_142-8insA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.221-9_221-8insA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.221-9_221-8insA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.221-9_221-8insA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.221-9_221-8insA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.239-9_239-8insA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.221-9_221-8insA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  hgvsc: ENST00000368287.1:n.246-9_246-8insA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.221-9_221-8insA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.-5-9_-5-8insA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.221-9_221-8insA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.-5-9_-5-8insA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.221-9_221-8insA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.93-9_93-8insA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.221-9_221-8insA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.221-9_221-8insA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.221-9_221-8insA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*30-9_*30-8insA
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 14590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD

6-127648301-G-GCTA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648301
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648304
    reference: chr 6
allele count: 1
allele frequency: 8.27417299640901e-6
allele num: 120858
alternate allele: GCTA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.221-13_221-12insTAG
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.221-13_221-12insTAG
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.239-13_239-12insTAG
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.-5-13_-5-12insTAG
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.93-13_93-12insTAG
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.-5-13_-5-12insTAG
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  hgvsc: ENST00000368287.1:n.246-13_246-12insTAG
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.221-13_221-12insTAG
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.221-13_221-12insTAG
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.221-13_221-12insTAG
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.221-13_221-12insTAG
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.142-13_142-12insTAG
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.221-13_221-12insTAG
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.221-13_221-12insTAG
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.221-13_221-12insTAG
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.221-13_221-12insTAG
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.221-13_221-12insTAG
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.221-13_221-12insTAG
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*30-13_*30-12insTAG
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

6-127648302-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648302
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648302
    reference: chr 6
allele count: 1
allele frequency: 8.274309922552459e-6
allele num: 120856
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.221-13C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.221-13C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.-5-13C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.221-13C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.221-13C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.221-13C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.239-13C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.221-13C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.221-13C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.-5-13C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.93-13C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.221-13C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.221-13C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.221-13C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*30-13C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.221-13C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  hgvsc: ENST00000368287.1:n.246-13C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.221-13C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.142-13C>G
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

6-127648305-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648305
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648305
    reference: chr 6
allele count: 1
allele frequency: 8.279790686891435e-6
allele num: 120776
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.221-16C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.93-16C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.239-16C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  hgvsc: ENST00000368287.1:n.246-16C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.221-16C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.221-16C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.-5-16C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.221-16C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.221-16C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*30-16C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.142-16C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.221-16C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.221-16C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.221-16C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.-5-16C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.221-16C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.221-16C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.221-16C>G
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.221-16C>G
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

6-127648306-T-TTC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648306
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648308
    reference: chr 6
allele count: 1
allele frequency: 8.280476292996373e-6
allele num: 120766
alternate allele: TTC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.93-18_93-17insGA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.-5-18_-5-17insGA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.221-18_221-17insGA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.221-18_221-17insGA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.221-18_221-17insGA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.221-18_221-17insGA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*30-18_*30-17insGA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.-5-18_-5-17insGA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.239-18_239-17insGA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.221-18_221-17insGA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.221-18_221-17insGA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.221-18_221-17insGA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.221-18_221-17insGA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.221-18_221-17insGA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.221-18_221-17insGA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.221-18_221-17insGA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  hgvsc: ENST00000368287.1:n.246-18_246-17insGA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.221-18_221-17insGA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.142-18_142-17insGA
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16741
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

6-127648307-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648307
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648307
    reference: chr 6
allele count: 1
allele frequency: 8.282122210995345e-6
allele num: 120742
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  hgvsc: ENST00000368287.1:n.246-18C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.221-18C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.142-18C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.-5-18C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.-5-18C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.221-18C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.221-18C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.239-18C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.221-18C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.221-18C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.221-18C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.221-18C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.221-18C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.93-18C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.221-18C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*30-18C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.221-18C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.221-18C>A
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.221-18C>A
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

6-127648312-ATCAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648312
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648308
    reference: chr 6
allele count: 1
allele frequency: 8.288437629506838e-6
allele num: 120650
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.221-27_221-24delGTGA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.221-27_221-24delGTGA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.-5-27_-5-24delGTGA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.221-27_221-24delGTGA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.221-27_221-24delGTGA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.221-27_221-24delGTGA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*30-27_*30-24delGTGA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.221-27_221-24delGTGA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  hgvsc: ENST00000368287.1:n.246-27_246-24delGTGA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.221-27_221-24delGTGA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.-5-27_-5-24delGTGA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.93-27_93-24delGTGA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.221-27_221-24delGTGA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.221-27_221-24delGTGA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.221-27_221-24delGTGA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.221-27_221-24delGTGA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.142-27_142-24delGTGA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.239-27_239-24delGTGA
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.221-27_221-24delGTGA
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: ATCAC
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum

6-127648319-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648319
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648319
    reference: chr 6
allele count: 5
allele frequency: 4.148964418481147e-5
allele num: 120512
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.221-30T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.221-30T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.221-30T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.221-30T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.221-30T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*30-30T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.221-30T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.239-30T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.221-30T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.221-30T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.-5-30T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.142-30T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.221-30T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.93-30T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.221-30T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.221-30T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.-5-30T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  hgvsc: ENST00000368287.1:n.246-30T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.221-30T>C
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

6-127648326-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127648326
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 127648326
    reference: chr 6
allele count: 2
allele frequency: 1.662538030557449e-5
allele num: 120298
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434143
  ensembl transcript: ENST00000531582
  gene symbol: ECHDC1
  hgvsc: ENST00000531582.1:c.221-37T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000404866
  ensembl transcript: ENST00000454591
  gene symbol: ECHDC1
  hgvsc: ENST00000454591.2:c.-5-37T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435502
  ensembl transcript: ENST00000534442
  gene symbol: ECHDC1
  hgvsc: ENST00000534442.1:c.221-37T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436703
  ensembl transcript: ENST00000368292
  gene symbol: ECHDC1
  hgvsc: ENST00000368292.6:c.221-37T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000402492
  ensembl transcript: ENST00000430841
  gene symbol: ECHDC1
  hgvsc: ENST00000430841.2:c.221-37T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000401751
  ensembl transcript: ENST00000454859
  gene symbol: ECHDC1
  hgvsc: ENST00000454859.3:c.221-37T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000368287
  gene symbol: ECHDC1
  hgvsc: ENST00000368287.1:n.246-37T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436109
  ensembl transcript: ENST00000528402
  gene symbol: ECHDC1
  hgvsc: ENST00000528402.1:c.-5-37T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000436585
  ensembl transcript: ENST00000531967
  gene symbol: ECHDC1
  hgvsc: ENST00000531967.1:c.239-37T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357274
  ensembl transcript: ENST00000368291
  gene symbol: ECHDC1
  hgvsc: ENST00000368291.2:c.221-37T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl transcript: ENST00000474240
  gene symbol: ECHDC1
  hgvsc: ENST00000474240.1:n.93-37T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000435068
  ensembl transcript: ENST00000525745
  gene symbol: ECHDC1
  hgvsc: ENST00000525745.1:c.221-37T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357278
  ensembl transcript: ENST00000368295
  gene symbol: ECHDC1
  hgvsc: ENST00000368295.4:c.221-37T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000311115
  ensembl transcript: ENST00000309620
  gene symbol: ECHDC1
  hgvsc: ENST00000309620.9:c.221-37T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000434908
  ensembl transcript: ENST00000474289
  gene symbol: ECHDC1
  hgvsc: ENST00000474289.2:c.221-37T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000357272
  ensembl transcript: ENST00000368289
  gene symbol: ECHDC1
  hgvsc: ENST00000368289.2:c.221-37T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000433874
  ensembl transcript: ENST00000526299
  gene symbol: ECHDC1
  hgvsc: ENST00000526299.1:c.*30-37T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000420711
  ensembl transcript: ENST00000479525
  gene symbol: ECHDC1
  hgvsc: ENST00000479525.2:c.221-37T>C
  variant of: http://identifiers.org/hgnc/21489
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000093144
  ensembl protein: ENSP00000399233
  ensembl transcript: ENST00000436638
  gene symbol: ECHDC1
  hgvsc: ENST00000436638.1:c.142-37T>C
  variant of: http://identifiers.org/hgnc/21489
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: A

GenotypeDepth
all individuals: 2400
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 404
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6544
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5387
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12337
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 294
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 119
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 383
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9897
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9713
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1769
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1541
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 645
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 245
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1725
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4062
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 922
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 265
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1516
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 750
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3571
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1872
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21093
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3395
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4881
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 130
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2160
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9088
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 143
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10206
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1352
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66148
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9746
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.090133982947625e-5
allele num: 16420
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.505e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.87e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 2.309416e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.59e-1

FS
type: SiteQuality
SIO_000300: 1.783e0

MQRankSum
type: SiteQuality
SIO_000300: 4.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.55e-1

GenotypeDepth
all individuals: 119
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 300
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1725
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 404
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9708
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12336
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2399
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1516
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5384
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4059
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1769
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6544
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 383
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1541
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9905
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 645
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 265
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 922
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 245
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2160
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1880
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3568
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21225
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 747
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4874
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10209
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3391
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1352
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9088
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.090133982947625e-5
allele num: 16420
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66136
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 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: 8610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.568e1

VQSLOD
type: SiteQuality
SIO_000300: 5.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

FS
type: SiteQuality
SIO_000300: 1.877e0

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

DP
type: SiteQuality
SIO_000300: 2.309222e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 404
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 922
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9150
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1940
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 644
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 134
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 265
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6473
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9510
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4032
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 245
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 358
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variant carriers: 0

GenotypeDepth
all individuals: 2384
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 9.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 1.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9082
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variant carriers: 1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9668
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3459
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variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 1.75e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515151515151515e-5
allele num: 66000
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9724
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 2.281775e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.89e-1

QD
type: SiteQuality
SIO_000300: 1.154e1

BaseQRankSum
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SIO_000300: -2.292e0

FS
type: SiteQuality
SIO_000300: 2.067e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.51e-1

GenotypeDepth
all individuals: 7197
bin: 2.25e1
variant carriers: 148

GenotypeDepth
all individuals: 667
bin: 6.75e1
variant carriers: 53

GenotypeDepth
all individuals: 941
bin: 6.25e1
variant carriers: 86

GenotypeDepth
all individuals: 1533
bin: 5.75e1
variant carriers: 111

GenotypeDepth
all individuals: 8641
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variant carriers: 207

GenotypeDepth
all individuals: 6170
bin: 4.25e1
variant carriers: 184

GenotypeDepth
all individuals: 394
bin: 7.75e1
variant carriers: 34

GenotypeDepth
all individuals: 581
bin: 7.5e0
variant carriers: 10

GenotypeDepth
all individuals: 5011
bin: 1.75e1
variant carriers: 66

GenotypeDepth
all individuals: 1521
bin: 9.75e1
variant carriers: 63

GenotypeDepth
all individuals: 147
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 271
bin: 8.25e1
variant carriers: 19

GenotypeDepth
all individuals: 3946
bin: 4.75e1
variant carriers: 166

GenotypeDepth
all individuals: 2353
bin: 5.25e1
variant carriers: 125

GenotypeDepth
all individuals: 1914
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variant carriers: 25

GenotypeDepth
all individuals: 190
bin: 9.25e1
variant carriers: 13

GenotypeDepth
all individuals: 7929
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variant carriers: 205

GenotypeDepth
all individuals: 420
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variant carriers: 38

GenotypeDepth
all individuals: 253
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variant carriers: 12

GenotypeDepth
all individuals: 10254
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variant carriers: 205

GenotypeQuality
all individuals: 1642
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8486
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variant carriers: 2

GenotypeQuality
all individuals: 407
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variant carriers: 1

GenotypeQuality
all individuals: 92
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variant carriers: 2

GenotypeQuality
all individuals: 244
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variant carriers: 3

GenotypeQuality
all individuals: 102
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 766
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variant carriers: 0

GenotypeQuality
all individuals: 4615
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variant carriers: 2

GenotypeQuality
all individuals: 2091
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variant carriers: 0

GenotypeQuality
all individuals: 3632
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 56
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10242
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variant carriers: 1743

GenotypeQuality
all individuals: 741
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3238
bin: 8.25e1
variant carriers: 6

GenotypeQuality
all individuals: 2801
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variant carriers: 0

GenotypeQuality
all individuals: 1285
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variant carriers: 4

GenotypeQuality
all individuals: 2040
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variant carriers: 1

GenotypeQuality
all individuals: 3252
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variant carriers: 3

GenotypeQuality
all individuals: 14480
bin: 6.25e1
variant carriers: 2

Other
type: Population
allele count: 14
allele frequency: 1.573033707865169e-2
allele num: 890
num of homozygotes: 0

African
type: Population
allele count: 287
allele frequency: 2.979651162790698e-2
allele num: 9632
num of homozygotes: 4

Latino
type: Population
allele count: 70
allele frequency: 6.154387198874627e-3
allele num: 11374
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 517
allele frequency: 7.879656160458453e-3
allele num: 65612
num of homozygotes: 6

European (Finnish)
type: Population
allele count: 14
allele frequency: 2.141982864137087e-3
allele num: 6536
num of homozygotes: 0

South Asian
type: Population
allele count: 835
allele frequency: 5.102040816326531e-2
allele num: 16366
num of homozygotes: 25

East Asian
type: Population
allele count: 59
allele frequency: 6.887695540508989e-3
allele num: 8566
num of homozygotes: 1

DP
type: SiteQuality
SIO_000300: 2.231943e6

QD
type: SiteQuality
SIO_000300: 1.807e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.49e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

GenotypeDepth
all individuals: 5035
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1505
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variant carriers: 1

GenotypeDepth
all individuals: 5793
bin: 4.25e1
variant carriers: 4

GenotypeDepth
all individuals: 1463
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variant carriers: 2

GenotypeDepth
all individuals: 9090
bin: 2.75e1
variant carriers: 8

GenotypeDepth
all individuals: 683
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variant carriers: 0

GenotypeDepth
all individuals: 2032
bin: 1.25e1
variant carriers: 3

GenotypeDepth
all individuals: 9373
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variant carriers: 3

GenotypeDepth
all individuals: 264
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variant carriers: 0

GenotypeDepth
all individuals: 369
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variant carriers: 0

GenotypeDepth
all individuals: 397
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GenotypeDepth
all individuals: 637
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variant carriers: 0

GenotypeDepth
all individuals: 2278
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variant carriers: 6

GenotypeDepth
all individuals: 894
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variant carriers: 0

GenotypeDepth
all individuals: 153
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variant carriers: 0

GenotypeDepth
all individuals: 3759
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variant carriers: 3

GenotypeDepth
all individuals: 8288
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variant carriers: 4

GenotypeDepth
all individuals: 7881
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variant carriers: 5

GenotypeDepth
all individuals: 251
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variant carriers: 0

GenotypeDepth
all individuals: 180
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variant carriers: 0

GenotypeQuality
all individuals: 3009
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GenotypeQuality
all individuals: 8839
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variant carriers: 39

GenotypeQuality
all individuals: 1664
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variant carriers: 0

GenotypeQuality
all individuals: 1322
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variant carriers: 0

GenotypeQuality
all individuals: 4481
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variant carriers: 1

GenotypeQuality
all individuals: 226
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variant carriers: 0

GenotypeQuality
all individuals: 1362
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variant carriers: 0

GenotypeQuality
all individuals: 559
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variant carriers: 0

GenotypeQuality
all individuals: 3285
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variant carriers: 0

GenotypeQuality
all individuals: 567
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variant carriers: 0

GenotypeQuality
all individuals: 3351
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 215
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variant carriers: 0

GenotypeQuality
all individuals: 175
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variant carriers: 0

GenotypeQuality
all individuals: 3704
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variant carriers: 0

GenotypeQuality
all individuals: 3692
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variant carriers: 0

GenotypeQuality
all individuals: 1909
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variant carriers: 0

GenotypeQuality
all individuals: 2110
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variant carriers: 0

GenotypeQuality
all individuals: 7348
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variant carriers: 0

GenotypeQuality
all individuals: 12433
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.048218029350105e-4
allele num: 9540
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

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

South Asian
type: Population
allele count: 10
allele frequency: 6.131207847946045e-4
allele num: 16310
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 28
allele frequency: 4.2997542997543e-4
allele num: 65120
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.764913519237557e-4
allele num: 11332
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-2

FS
type: SiteQuality
SIO_000300: 1.421e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.67e0

DP
type: SiteQuality
SIO_000300: 2.188601e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.37e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e0

QD
type: SiteQuality
SIO_000300: 1.509e1

GenotypeDepth
all individuals: 152
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 804
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1559
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variant carriers: 0

GenotypeDepth
all individuals: 16
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variant carriers: 0

GenotypeDepth
all individuals: 41
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variant carriers: 0

GenotypeDepth
all individuals: 4
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variant carriers: 0

GenotypeDepth
all individuals: 100
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variant carriers: 0

GenotypeDepth
all individuals: 494
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1040
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1974
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2043
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 19
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variant carriers: 0

GenotypeDepth
all individuals: 18
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variant carriers: 0

GenotypeDepth
all individuals: 357
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variant carriers: 0

GenotypeDepth
all individuals: 15
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variant carriers: 0

GenotypeDepth
all individuals: 11
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variant carriers: 0

GenotypeDepth
all individuals: 193
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variant carriers: 0

GenotypeDepth
all individuals: 21
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variant carriers: 0

GenotypeDepth
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1198
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
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variant carriers: 0

GenotypeQuality
all individuals: 3572
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
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variant carriers: 0

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
all individuals: 209
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variant carriers: 6

GenotypeQuality
all individuals: 212
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variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 6.629541235746487e-4
allele num: 7542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4900
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.424657534246575e-3
allele num: 292
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.37e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.91041e5

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.04e-1

QD
type: SiteQuality
SIO_000300: 1.248e1

VQSLOD
type: SiteQuality
SIO_000300: 5.27e-1

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

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

GenotypeDepth
all individuals: 810
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
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GenotypeDepth
all individuals: 194
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variant carriers: 0

GenotypeDepth
all individuals: 128
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variant carriers: 0

GenotypeDepth
all individuals: 2211
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variant carriers: 0

GenotypeDepth
all individuals: 550
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variant carriers: 0

GenotypeDepth
all individuals: 16
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variant carriers: 0

GenotypeDepth
all individuals: 1464
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variant carriers: 0

GenotypeDepth
all individuals: 15
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variant carriers: 0

GenotypeDepth
all individuals: 426
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variant carriers: 0

GenotypeDepth
all individuals: 27
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variant carriers: 0

GenotypeDepth
all individuals: 21
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variant carriers: 0

GenotypeDepth
all individuals: 41
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variant carriers: 0

GenotypeDepth
all individuals: 15
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variant carriers: 0

GenotypeDepth
all individuals: 2374
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GenotypeDepth
all individuals: 18
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variant carriers: 0

GenotypeDepth
all individuals: 353
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 85
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variant carriers: 0

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

GenotypeQuality
all individuals: 189
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1181
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 211
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4466
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.025931928687196e-4
allele num: 4936
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -4.249e0

MQ
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -2.13e-2

VQSLOD
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QD
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DP
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GenotypeDepth
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variant carriers: 0

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

South Asian
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allele frequency: 3.953610964681075e-4
allele num: 7588
num of homozygotes: 0

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

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

GenotypeDepth
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variant carriers: 0

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 1.108647450110865e-3
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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VQSLOD
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SIO_000300: -1.428e0

InbreedingCoeff
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SIO_000300: -1.82e-2

BaseQRankSum
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MQ
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SIO_000300: 5.91e1

FS
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SIO_000300: 3.143e0

ClippingRankSum
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MQRankSum
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SIO_000300: 2.21e0

DP
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SIO_000300: 2.02623e5

QD
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ReadPosRankSum
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SIO_000300: 1.71e0

GenotypeDepth
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variant carriers: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.982553528945282e-4
allele num: 5044
num of homozygotes: 0

Other
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MQ
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SIO_000300: 5.956e1

QD
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BaseQRankSum
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MQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: -9.0e-1

VQSLOD
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SIO_000300: 1.15e0

DP
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GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

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

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

Other
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East Asian
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South Asian
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num of homozygotes: 0

European (Non-Finnish)
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FS
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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QD
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ReadPosRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.971608832807571e-4
allele num: 5072
num of homozygotes: 0

Latino
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num of homozygotes: 0

African
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East Asian
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European (Finnish)
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Other
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South Asian
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MQ
type: SiteQuality
SIO_000300: 5.79e1

InbreedingCoeff
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FS
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MQRankSum
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DP
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ClippingRankSum
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VQSLOD
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QD
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: -1.772e0

GenotypeDepth
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variant carriers: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

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

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

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

South Asian
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allele num: 7666
num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
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num of homozygotes: 0

VQSLOD
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InbreedingCoeff
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MQRankSum
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MQ
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BaseQRankSum
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QD
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FS
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ReadPosRankSum
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DP
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ClippingRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

South Asian
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allele frequency: 1.695799634750848e-3
allele num: 7666
num of homozygotes: 0

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

Other
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num of homozygotes: 0

ClippingRankSum
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SIO_000300: -4.1e-1

BaseQRankSum
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InbreedingCoeff
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SIO_000300: -1.37e-2

VQSLOD
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DP
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MQRankSum
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MQ
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SIO_000300: 5.939e1

QD
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FS
type: SiteQuality
SIO_000300: 1.134e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.95e-1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

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

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele count: 1
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allele num: 7658
num of homozygotes: 0

African
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allele count: 1
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allele num: 898
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.919e1

DP
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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FS
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SIO_000300: 9.842000000000001e0

MQRankSum
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QD
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SIO_000300: 1.114e1

InbreedingCoeff
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SIO_000300: -8.500000000000001e-3

GenotypeDepth
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variant carriers: 0

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

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

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

South Asian
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num of homozygotes: 0

East Asian
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European (Non-Finnish)
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African
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Other
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BaseQRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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VQSLOD
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FS
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DP
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ClippingRankSum
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 7

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 45

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 7.882291119285339e-4
allele num: 7612
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 1.31578947368421e-2
allele num: 152
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 36
allele frequency: 7.323026851098454e-3
allele num: 4916
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 7.246376811594203e-3
allele num: 276
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.235e1

ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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DP
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SIO_000300: 1.93035e5

MQ
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SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.63e-1

MQRankSum
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ReadPosRankSum
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SIO_000300: 1.53e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
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variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 302
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2132
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 71
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 734
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 311
bin: 7.5e0
variant carriers: 0

GenotypeDepth
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bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 737
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2448
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 9.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 608
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4438
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 197
bin: 9.75e1
variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.180549498473615e-4
allele num: 4586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 148
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-3

DP
type: SiteQuality
SIO_000300: 1.77058e5

QD
type: SiteQuality
SIO_000300: 8.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.17e-1

FS
type: SiteQuality
SIO_000300: 1.725e0

VQSLOD
type: SiteQuality
SIO_000300: 1.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.83e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.83e-1

GenotypeDepth
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 823
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 345
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2306
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1916
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 414
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1075
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 658
bin: 3.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 16
bin: 6.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 17
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 557
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 988
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 742
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
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variant carriers: 0

GenotypeQuality
all individuals: 46
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variant carriers: 0

GenotypeQuality
all individuals: 3974
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.808988764044944e-3
allele num: 356
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.148e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.59e-1

DP
type: SiteQuality
SIO_000300: 1.69411e5

VQSLOD
type: SiteQuality
SIO_000300: 1.55e0

MQRankSum
type: SiteQuality
SIO_000300: 2.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.69e-1

QD
type: SiteQuality
SIO_000300: 1.341e1

MQ
type: SiteQuality
SIO_000300: 5.964e1

GenotypeDepth
all individuals: 40
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1396
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1197
bin: 1.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 1100
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 113
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
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variant carriers: 0

GenotypeDepth
all individuals: 404
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variant carriers: 0

GenotypeDepth
all individuals: 1756
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 524
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variant carriers: 0

GenotypeDepth
all individuals: 19
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variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
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variant carriers: 0

GenotypeDepth
all individuals: 1360
bin: 2.25e1
variant carriers: 3

GenotypeDepth
all individuals: 11
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variant carriers: 0

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

GenotypeQuality
all individuals: 200
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 64
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2819
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 939
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
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variant carriers: 0

GenotypeQuality
all individuals: 430
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variant carriers: 0

GenotypeQuality
all individuals: 99
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variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 5.357621216180017e-4
allele num: 7466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4252
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.26e-1

MQ
type: SiteQuality
SIO_000300: 6.134e1

VQSLOD
type: SiteQuality
SIO_000300: 1.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e0

FS
type: SiteQuality
SIO_000300: 6.088e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.74e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.263e1

DP
type: SiteQuality
SIO_000300: 1.53761e5

GenotypeDepth
all individuals: 2224
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14588
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 929
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4755
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 716
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16075
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 438
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1500
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1587
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 493
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37
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variant carriers: 0

GenotypeDepth
all individuals: 8084
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 222
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4581
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2601
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 413
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variant carriers: 0

GenotypeDepth
all individuals: 847
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variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1729
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4980
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10830
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 695
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 768
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 857
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2693
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3357
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4035
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19997
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variant carriers: 0

GenotypeQuality
all individuals: 8349
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50793172085168e-5
allele num: 66316
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.21e1

FS
type: SiteQuality
SIO_000300: 1.718e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.098e0

DP
type: SiteQuality
SIO_000300: 2.105854e6

GenotypeDepth
all individuals: 716
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 930
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14681
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 500
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 222
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7300
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1500
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4579
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8081
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 286
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 203
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 493
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 413
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16729
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2603
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 848
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2686
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4021
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 79
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23480
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 161
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10824
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3353
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1722
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8470
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4951
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16206
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504936190705514e-5
allele num: 66448
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.176e1

VQSLOD
type: SiteQuality
SIO_000300: 5.56e-1

DP
type: SiteQuality
SIO_000300: 2.132362e6

FS
type: SiteQuality
SIO_000300: 3.158e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

MQRankSum
type: SiteQuality
SIO_000300: 2.72e-1

MQ
type: SiteQuality
SIO_000300: 5.986e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.393e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.74e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000093144
ensembl protein: ENSP00000436109
ensembl transcript: ENST00000528402
gene symbol: ECHDC1
hgvsc: ENST00000528402.1:c.138+12A>G
variant of: http://identifiers.org/hgnc/21489

GenotypeDepth
all individuals: 221
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 493
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7515
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16989
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 848
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2602
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4584
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14722
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1500
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 716
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 222
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8080
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 413
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 929
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2686
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4027
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1723
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4961
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3365
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10824
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8524
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23988
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16374
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66550
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.665e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.851e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.33e0

DP
type: SiteQuality
SIO_000300: 2.139498e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.42e-1

FS
type: SiteQuality
SIO_000300: 2.996e0

QD
type: SiteQuality
SIO_000300: 1.373e1

MQRankSum
type: SiteQuality
SIO_000300: -5.96e-1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000093144
ensembl protein: ENSP00000436703
ensembl transcript: ENST00000368292
gene symbol: ECHDC1
hgvsc: ENST00000368292.6:c.363+6T>A
variant of: http://identifiers.org/hgnc/21489

Annotation
canonical: true
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000093144
ensembl protein: ENSP00000436585
ensembl transcript: ENST00000531967
gene symbol: ECHDC1
hgvsc: ENST00000531967.1:c.381+6T>A
variant of: http://identifiers.org/hgnc/21489

GenotypeDepth
all individuals: 279
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2603
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 222
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 847
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7586
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 413
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14747
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4580
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1500
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 930
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 716
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17083
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 109
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8084
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 62
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 493
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 139
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3374
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4016
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 56
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10823
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 8532
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2688
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24213
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4957
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1723
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003634397621121e-5
allele num: 66586
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.142445e6

MQRankSum
type: SiteQuality
SIO_000300: 7.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.82e-1

FS
type: SiteQuality
SIO_000300: 4.595e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.153e1

MQ
type: SiteQuality
SIO_000300: 5.98e1

Annotation
canonical: false
consequence: splice_donor_variant
ensembl gene: ENSG00000093144
ensembl protein: ENSP00000402492
ensembl transcript: ENST00000430841
gene symbol: ECHDC1
hgvsc: ENST00000430841.2:c.363+2C>T
variant of: http://identifiers.org/hgnc/21489

GenotypeDepth
all individuals: 223
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1499
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2601
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17148
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 716
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 280
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 72
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 84
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 414
bin: 7.25e1
variant carriers: 2

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

GenotypeDepth
all individuals: 494
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 14752
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4580
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7596
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 851
bin: 9.75e1
variant carriers: 5

GenotypeDepth
all individuals: 8085
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 931
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 185
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24298
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4960
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2685
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8539
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1721
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10826
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 4016
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3373
bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.951365956169319e-4
allele num: 66620
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.121e0

QD
type: SiteQuality
SIO_000300: 1.189e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.38e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.89e-1

DP
type: SiteQuality
SIO_000300: 2.144458e6

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.75e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000093144
ensembl protein: ENSP00000435068
ensembl transcript: ENST00000525745
gene symbol: ECHDC1
hgvsc: ENST00000525745.1:c.355A>G
hgvsp: ENSP00000435068.1:p.Thr119Ala
variant of: http://identifiers.org/hgnc/21489

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000093144
ensembl protein: ENSP00000434908
ensembl transcript: ENST00000474289
gene symbol: ECHDC1
hgvsc: ENST00000474289.2:c.355A>G
hgvsp: ENSP00000434908.1:p.Thr119Ala
variant of: http://identifiers.org/hgnc/21489

GenotypeDepth
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 930
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4579
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8085
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14760
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 492
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 185
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1498
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2602
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7595
bin: 2.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 17253
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 412
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 222
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 717
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 846
bin: 9.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 4958
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24426
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1720
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10814
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3370
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8563
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2686
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4015
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499925003749813e-5
allele num: 66670
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.56e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

VQSLOD
type: SiteQuality
SIO_000300: -4.147e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.78e0

DP
type: SiteQuality
SIO_000300: 2.145115e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.25e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e-1

FS
type: SiteQuality
SIO_000300: 6.216e0

QD
type: SiteQuality
SIO_000300: 1.016e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e-1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000093144
ensembl protein: ENSP00000435068
ensembl transcript: ENST00000525745
gene symbol: ECHDC1
hgvsc: ENST00000525745.1:c.351A>G
hgvsp: ENST00000525745.1:c.351A>G(p.%3D)
variant of: http://identifiers.org/hgnc/21489

GenotypeDepth
all individuals: 8085
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1496
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 714
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4579
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 491
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2601
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7597
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 278
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17266
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 222
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 858
bin: 9.75e1
variant carriers: 12

GenotypeDepth
all individuals: 149
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 411
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14758
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 930
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 182
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2686
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24457
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4016
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1719
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4959
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8559
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3371
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10815
bin: 9.75e1
variant carriers: 13

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.949668556345421e-4
allele num: 66678
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.162e1

VQSLOD
type: SiteQuality
SIO_000300: 2.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.92e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

FS
type: SiteQuality
SIO_000300: 5.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.649999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.25e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

DP
type: SiteQuality
SIO_000300: 2.146238e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.58e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000093144
ensembl transcript: ENST00000474240
gene symbol: ECHDC1
hgvsc: ENST00000474240.1:n.208T>C
variant of: http://identifiers.org/hgnc/21489

GenotypeDepth
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 931
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 8086
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 411
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1496
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 713
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 846
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 182
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17293
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 278
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2602
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14765
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4578
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 491
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 222
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7611
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2686
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4017
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24510
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1723
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3373
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8567
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 10802
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4954
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.145477e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.21e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.465e0

MQ
type: SiteQuality
SIO_000300: 5.852e1

MQRankSum
type: SiteQuality
SIO_000300: 9.51e-1

FS
type: SiteQuality
SIO_000300: 9.330000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.159e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

QD
type: SiteQuality
SIO_000300: 1.127e1

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000093144
ensembl protein: ENSP00000420711
ensembl transcript: ENST00000479525
gene symbol: ECHDC1
hgvsc: ENST00000479525.2:c.333G>C
hgvsp: ENST00000479525.2:c.333G>C(p.%3D)
variant of: http://identifiers.org/hgnc/21489

GenotypeDepth
all individuals: 17294
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2601
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 713
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 222
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14767
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7607
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 182
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 930
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1496
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 847
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4578
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 491
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 277
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 411
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8088
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4954
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24507
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2686
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 27
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1722
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8566
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4017
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3374
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10801
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -9.65e-1

QD
type: SiteQuality
SIO_000300: 1.364e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.84e-1

DP
type: SiteQuality
SIO_000300: 2.145554e6

FS
type: SiteQuality
SIO_000300: 2.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.093e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.516e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000093144
ensembl protein: ENSP00000402492
ensembl transcript: ENST00000430841
gene symbol: ECHDC1
hgvsc: ENST00000430841.2:c.312T>C
hgvsp: ENST00000430841.2:c.312T>C(p.%3D)
variant of: http://identifiers.org/hgnc/21489

GenotypeDepth
all individuals: 14772
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 713
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8088
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17301
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 930
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1495
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 491
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7613
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4577
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2601
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 411
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 182
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 847
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 24543
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4014
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1723
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4957
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3371
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10800
bin: 9.75e1
variant carriers: 3

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

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

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2686
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8555
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 3
allele frequency: 2.882952142994427e-4
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.147e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.44e-1

QD
type: SiteQuality
SIO_000300: 1.353e1

MQRankSum
type: SiteQuality
SIO_000300: 6.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

DP
type: SiteQuality
SIO_000300: 2.145883e6

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.34e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000093144
ensembl protein: ENSP00000357272
ensembl transcript: ENST00000368289
gene symbol: ECHDC1
hgvsc: ENST00000368289.2:c.302C>T
hgvsp: ENSP00000357272.2:p.Ala101Val
variant of: http://identifiers.org/hgnc/21489

GenotypeDepth
all individuals: 4576
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 847
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 930
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1495
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7603
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 14774
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 17306
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 150
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2601
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 277
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 222
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 182
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 411
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 491
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 8087
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 713
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8551
bin: 6.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 4012
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4958
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1723
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24543
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2685
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10801
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 3369
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
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: 66724
num of homozygotes: 0

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

African
type: Population
allele count: 4
allele frequency: 3.843936190659235e-4
allele num: 10406
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.441e0

FS
type: SiteQuality
SIO_000300: 1.948e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

DP
type: SiteQuality
SIO_000300: 2.145807e6

QD
type: SiteQuality
SIO_000300: 1.11e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000093144
ensembl transcript: ENST00000368287
gene symbol: ECHDC1
hgvsc: ENST00000368287.1:n.325G>A
variant of: http://identifiers.org/hgnc/21489

GenotypeDepth
all individuals: 221
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 931
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 14772
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2601
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8088
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7608
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1494
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 17306
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 411
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 490
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 182
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4576
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 847
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 277
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 712
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4014
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 24547
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 10795
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1722
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 20
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3370
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4959
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8553
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2684
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e0

DP
type: SiteQuality
SIO_000300: 2.145546e6

VQSLOD
type: SiteQuality
SIO_000300: 7.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQ
type: SiteQuality
SIO_000300: 5.982e1

QD
type: SiteQuality
SIO_000300: 1.262e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.598e0

FS
type: SiteQuality
SIO_000300: 1.117e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.7e-2

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000093144
ensembl protein: ENSP00000402492
ensembl transcript: ENST00000430841
gene symbol: ECHDC1
hgvsc: ENST00000430841.2:c.296G>A
hgvsp: ENSP00000402492.2:p.Arg99His
variant of: http://identifiers.org/hgnc/21489

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

GenotypeDepth
all individuals: 17300
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 182
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2601
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 853
bin: 9.75e1
variant carriers: 10

GenotypeDepth
all individuals: 4577
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 930
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14773
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 711
bin: 6.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 1493
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7610
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 488
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 7.75e1
variant carriers: 2

GenotypeDepth
all individuals: 8087
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 221
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 21
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3367
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1723
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24544
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10794
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 8555
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4957
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4014
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2682
bin: 9.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 2
allele frequency: 1.921968095329617e-4
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.098321342925659e-4
allele num: 66720
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.394e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

DP
type: SiteQuality
SIO_000300: 2.14609e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.5e0

MQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

FS
type: SiteQuality
SIO_000300: 5.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000093144
ensembl protein: ENSP00000402492
ensembl transcript: ENST00000430841
gene symbol: ECHDC1
hgvsc: ENST00000430841.2:c.286C>A
hgvsp: ENSP00000402492.2:p.Leu96Ile
variant of: http://identifiers.org/hgnc/21489

GenotypeDepth
all individuals: 488
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8090
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 710
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 844
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 14
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 2600
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7609
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 928
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14776
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4578
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17308
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 411
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 221
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1495
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 148
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1723
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8550
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24565
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4954
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4015
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2682
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3366
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10785
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

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

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.416e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.553e0

DP
type: SiteQuality
SIO_000300: 2.144905e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.5e-3

QD
type: SiteQuality
SIO_000300: 8.75e0

FS
type: SiteQuality
SIO_000300: 8.817e0

VQSLOD
type: SiteQuality
SIO_000300: -1.956e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.797e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000093144
ensembl protein: ENSP00000404866
ensembl transcript: ENST00000454591
gene symbol: ECHDC1
hgvsc: ENST00000454591.2:c.57A>G
hgvsp: ENST00000454591.2:c.57A>G(p.%3D)
variant of: http://identifiers.org/hgnc/21489

GenotypeDepth
all individuals: 277
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14777
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 148
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 1.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 8088
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 489
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 411
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4579
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 710
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 221
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17308
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 843
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1496
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2600
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7602
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 927
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2681
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10783
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3367
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8548
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 24555
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4015
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1721
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4950
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.728608470181504e-4
allele num: 11570
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
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: 6614
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.588e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e0

MQRankSum
type: SiteQuality
SIO_000300: -3.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

QD
type: SiteQuality
SIO_000300: 1.54e1

DP
type: SiteQuality
SIO_000300: 2.144798e6

Annotation
canonical: false
consequence: frameshift_variant
ensembl gene: ENSG00000093144
ensembl protein: ENSP00000404866
ensembl transcript: ENST00000454591
gene symbol: ECHDC1
hgvsc: ENST00000454591.2:c.30delT
hgvsp: ENSP00000404866.2:p.Ile10MetfsTer27
variant of: http://identifiers.org/hgnc/21489

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

GenotypeDepth
all individuals: 1493
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 842
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7597
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4578
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17285
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2598
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14756
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8077
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 928
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 221
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 488
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 710
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 279
bin: 7.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 24545
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8516
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3353
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10776
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1715
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2676
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4006
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4942
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.378e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.119e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

DP
type: SiteQuality
SIO_000300: 2.143448e6

VQSLOD
type: SiteQuality
SIO_000300: 5.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.93e-1

MQ
type: SiteQuality
SIO_000300: 5.994e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000093144
ensembl protein: ENSP00000435068
ensembl transcript: ENST00000525745
gene symbol: ECHDC1
hgvsc: ENST00000525745.1:c.253A>G
hgvsp: ENSP00000435068.1:p.Ile85Val
variant of: http://identifiers.org/hgnc/21489

GenotypeDepth
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17280
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8078
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 927
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14753
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 488
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7589
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1494
bin: 5.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 4575
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2598
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 221
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 710
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 842
bin: 9.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4941
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2677
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 76
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10776
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1715
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4005
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24536
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8513
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3353
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 8.308999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.82e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.109e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

DP
type: SiteQuality
SIO_000300: 2.143061e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.84e-1

QD
type: SiteQuality
SIO_000300: 1.809e1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000093144
ensembl protein: ENSP00000433874
ensembl transcript: ENST00000526299
gene symbol: ECHDC1
hgvsc: ENST00000526299.1:c.*61A>G
variant of: http://identifiers.org/hgnc/21489

GenotypeDepth
all individuals: 36
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 277
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7589
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1493
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 488
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 14752
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17281
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 60
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 927
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 710
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2598
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4573
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8076
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 221
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 842
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24533
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8515
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3354
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 78
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1715
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2676
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4005
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10776
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4942
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 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: 8652
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.776e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.37e-1

FS
type: SiteQuality
SIO_000300: 1.583e0

DP
type: SiteQuality
SIO_000300: 2.142925e6

MQRankSum
type: SiteQuality
SIO_000300: -1.723e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.85e-2

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000093144
ensembl protein: ENSP00000436585
ensembl transcript: ENST00000531967
gene symbol: ECHDC1
hgvsc: ENST00000531967.1:c.264A>G
hgvsp: ENST00000531967.1:c.264A>G(p.%3D)
variant of: http://identifiers.org/hgnc/21489

GenotypeDepth
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14745
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 710
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2594
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 221
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17280
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8073
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 489
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 842
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1493
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7573
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 926
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4571
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10774
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 36
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2676
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3349
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 4939
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1713
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8502
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4001
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24505
bin: 6.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.195e1

DP
type: SiteQuality
SIO_000300: 2.142303e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQRankSum
type: SiteQuality
SIO_000300: 2.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.17e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 3.223e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.11e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000093144
ensembl protein: ENSP00000402492
ensembl transcript: ENST00000430841
gene symbol: ECHDC1
hgvsc: ENST00000430841.2:c.245A>T
hgvsp: ENSP00000402492.2:p.Glu82Val
variant of: http://identifiers.org/hgnc/21489

GenotypeDepth
all individuals: 7576
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14743
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 488
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 926
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2595
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 17280
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 80
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4571
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1492
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 710
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8073
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 221
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 842
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2676
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1713
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3351
bin: 7.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 24516
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8501
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4001
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4940
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10773
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.016e0

DP
type: SiteQuality
SIO_000300: 2.142236e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.075e1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.82e-1

Annotation
canonical: false
consequence: inframe_deletion
ensembl gene: ENSG00000093144
ensembl protein: ENSP00000404866
ensembl transcript: ENST00000454591
gene symbol: ECHDC1
hgvsc: ENST00000454591.2:c.15_17delTCT
hgvsp: ENSP00000404866.2:p.Leu6del
variant of: http://identifiers.org/hgnc/21489

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

GenotypeDepth
all individuals: 7575
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17267
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 58
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4573
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 221
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1492
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14742
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8075
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 710
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 926
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 488
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2595
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 842
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2675
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3999
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3350
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24512
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4936
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10773
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 104
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8494
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1713
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.14209e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

MQRankSum
type: SiteQuality
SIO_000300: -1.849e0

MQ
type: SiteQuality
SIO_000300: 4.759e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.109e0

FS
type: SiteQuality
SIO_000300: 3.09e0

VQSLOD
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 5.04e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000093144
ensembl protein: ENSP00000311115
ensembl transcript: ENST00000309620
gene symbol: ECHDC1
hgvsc: ENST00000309620.9:c.240T>C
hgvsp: ENST00000309620.9:c.240T>C(p.%3D)
variant of: http://identifiers.org/hgnc/21489

GenotypeDepth
all individuals: 842
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17267
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 64
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2594
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 710
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 488
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8073
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7561
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14726
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1491
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 927
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 221
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4570
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3999
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24484
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3351
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4936
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8489
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10771
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 123
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1713
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2675
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.648e0

MQRankSum
type: SiteQuality
SIO_000300: -7.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.52e-1

DP
type: SiteQuality
SIO_000300: 2.141452e6

QD
type: SiteQuality
SIO_000300: 1.218e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

Annotation
canonical: false
consequence: frameshift_variant
ensembl gene: ENSG00000093144
ensembl protein: ENSP00000402492
ensembl transcript: ENST00000430841
gene symbol: ECHDC1
hgvsc: ENST00000430841.2:c.232_236delCTACA
hgvsp: ENSP00000402492.2:p.Leu78ThrfsTer7
variant of: http://identifiers.org/hgnc/21489

GenotypeDepth
all individuals: 4568
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8072
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 927
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 488
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2594
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 710
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7543
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 69
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 221
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14722
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17268
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 842
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1490
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8484
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 133
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1713
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24484
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4934
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2674
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3998
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10769
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3350
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -2.392e0

MQ
type: SiteQuality
SIO_000300: 4.642e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.141124e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 2.79e0

VQSLOD
type: SiteQuality
SIO_000300: -4.019e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000093144
ensembl protein: ENSP00000357274
ensembl transcript: ENST00000368291
gene symbol: ECHDC1
hgvsc: ENST00000368291.2:c.233T>C
hgvsp: ENSP00000357274.2:p.Leu78Pro
variant of: http://identifiers.org/hgnc/21489

GenotypeDepth
all individuals: 63
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8073
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17258
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 926
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2593
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7503
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14713
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 411
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 153
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1490
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 221
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 842
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 488
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4566
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 709
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1712
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8469
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4931
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 58
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2674
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 163
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10766
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3996
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3349
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24422
bin: 6.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.164e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e0

FS
type: SiteQuality
SIO_000300: 5.461e0

DP
type: SiteQuality
SIO_000300: 2.140303e6

VQSLOD
type: SiteQuality
SIO_000300: -1.32e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.56e-2

QD
type: SiteQuality
SIO_000300: 1.259e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e0

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000093144
ensembl protein: ENSP00000357278
ensembl transcript: ENST00000368295
gene symbol: ECHDC1
hgvsc: ENST00000368295.4:c.232C>G
hgvsp: ENSP00000357278.4:p.Leu78Val
variant of: http://identifiers.org/hgnc/21489

GenotypeDepth
all individuals: 4567
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14713
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17252
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2596
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 488
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 709
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1489
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 926
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 165
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7487
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 94
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8071
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 842
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 221
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 174
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3996
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2674
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1709
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4929
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 62
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24401
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10765
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3348
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8465
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40
bin: 3.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66608
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.026e-1

FS
type: SiteQuality
SIO_000300: 6.86e0

DP
type: SiteQuality
SIO_000300: 2.140016e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.87e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.45e-1

QD
type: SiteQuality
SIO_000300: 1.066e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000093144
ensembl transcript: ENST00000368287
gene symbol: ECHDC1
hgvsc: ENST00000368287.1:n.254_255insAGG
variant of: http://identifiers.org/hgnc/21489

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

GenotypeDepth
all individuals: 7473
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1489
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17247
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 221
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 842
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 709
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4566
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14698
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 193
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 926
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8067
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2593
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 488
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3342
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 198
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4927
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1709
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8459
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3997
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10765
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2674
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24378
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501321162623108e-5
allele num: 66608
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 4.511e1

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

MQRankSum
type: SiteQuality
SIO_000300: -2.359e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.41e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.0e-1

DP
type: SiteQuality
SIO_000300: 2.139341e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

QD
type: SiteQuality
SIO_000300: 5.04e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000093144
ensembl transcript: ENST00000368287
gene symbol: ECHDC1
hgvsc: ENST00000368287.1:n.254A>G
variant of: http://identifiers.org/hgnc/21489

GenotypeDepth
all individuals: 8065
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 709
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1489
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7427
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17227
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 86
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 411
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 221
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 14703
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2593
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 115
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4566
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 277
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variant carriers: 0

GenotypeDepth
all individuals: 842
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 926
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 487
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 80
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2674
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8447
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 41
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10763
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24282
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4926
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variant carriers: 0

GenotypeQuality
all individuals: 1709
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3342
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3996
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002642325246217e-5
allele num: 66608
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.715e-1

FS
type: SiteQuality
SIO_000300: 3.814e0

MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

DP
type: SiteQuality
SIO_000300: 2.138609e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.3e-2

MQ
type: SiteQuality
SIO_000300: 5.96e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.04e-2

QD
type: SiteQuality
SIO_000300: 1.382e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.62e0

GenotypeDepth
all individuals: 220
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1490
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8064
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 149
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14675
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variant carriers: 0

GenotypeDepth
all individuals: 123
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 842
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2592
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 136
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 709
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 277
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variant carriers: 0

GenotypeDepth
all individuals: 296
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 7378
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 487
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variant carriers: 0

GenotypeDepth
all individuals: 4564
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17185
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 410
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 926
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 1709
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
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variant carriers: 0

GenotypeQuality
all individuals: 67
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 30
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variant carriers: 0

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

GenotypeQuality
all individuals: 8426
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4909
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variant carriers: 0

GenotypeQuality
all individuals: 24161
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10760
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3338
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
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variant carriers: 0

GenotypeQuality
all individuals: 3993
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2675
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501681883709755e-5
allele num: 66592
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 4.511e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.96e-2

QD
type: SiteQuality
SIO_000300: 5.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.599e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.1e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.136848e6

GenotypeDepth
all individuals: 277
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 297
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 123
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 220
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8062
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 926
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2593
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 136
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1489
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4564
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17187
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variant carriers: 0

GenotypeDepth
all individuals: 149
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variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3991
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2675
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variant carriers: 0

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
all individuals: 8426
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
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variant carriers: 0

GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24183
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3337
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1709
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4911
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10760
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501636784094663e-5
allele num: 66594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

MQ
type: SiteQuality
SIO_000300: 4.511e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.134e0

MQRankSum
type: SiteQuality
SIO_000300: -2.637e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.61e-1

QD
type: SiteQuality
SIO_000300: 1.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.99e-2

DP
type: SiteQuality
SIO_000300: 2.136795e6

GenotypeDepth
all individuals: 345
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2593
bin: 4.75e1
variant carriers: 0

GenotypeDepth
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bin: 2.25e1
variant carriers: 0

GenotypeDepth
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bin: 2.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 8060
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variant carriers: 0

GenotypeDepth
all individuals: 132
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variant carriers: 0

GenotypeDepth
all individuals: 149
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variant carriers: 0

GenotypeDepth
all individuals: 709
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 487
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 181
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1489
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 926
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14671
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 410
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4560
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 842
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10755
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
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variant carriers: 0

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

GenotypeQuality
all individuals: 86
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variant carriers: 0

GenotypeQuality
all individuals: 2673
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 4899
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1706
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3327
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8404
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50195253829979e-5
allele num: 66580
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.18e0

QD
type: SiteQuality
SIO_000300: 1.89e0

MQ
type: SiteQuality
SIO_000300: 4.511e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.134e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.93e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

DP
type: SiteQuality
SIO_000300: 2.135867e6

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

GenotypeDepth
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bin: 5.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 4.75e1
variant carriers: 0

GenotypeDepth
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bin: 1.25e1
variant carriers: 1

GenotypeDepth
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bin: 3.75e1
variant carriers: 0

GenotypeDepth
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bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4556
bin: 4.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 709
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 220
bin: 8.25e1
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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QD
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FS
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DP
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ClippingRankSum
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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Latino
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European (Finnish)
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QD
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MQ
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InbreedingCoeff
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DP
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VQSLOD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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FS
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BaseQRankSum
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ReadPosRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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VQSLOD
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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European (Finnish)
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African
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East Asian
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DP
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MQRankSum
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VQSLOD
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FS
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MQ
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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European (Non-Finnish)
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African
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East Asian
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DP
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FS
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InbreedingCoeff
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MQ
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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VQSLOD
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MQRankSum
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ReadPosRankSum
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FS
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ClippingRankSum
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BaseQRankSum
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MQ
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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East Asian
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European (Finnish)
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South Asian
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Latino
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African
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VQSLOD
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InbreedingCoeff
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QD
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FS
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ReadPosRankSum
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ClippingRankSum
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MQ
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MQRankSum
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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East Asian
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FS
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BaseQRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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VQSLOD
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MQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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Latino
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African
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South Asian
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European (Non-Finnish)
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Other
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BaseQRankSum
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FS
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InbreedingCoeff
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DP
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQ
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QD
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Other
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South Asian
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African
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Latino
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European (Non-Finnish)
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East Asian
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InbreedingCoeff
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DP
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FS
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ReadPosRankSum
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MQRankSum
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QD
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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MQ
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